chr1:155235252:A>G Detail (hg38) (GBA1, LOC106627981)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:155,205,043-155,205,043 View the variant detail on this assembly version. |
| hg38 | chr1:155,235,252-155,235,252 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001005741.2:c.1448T>C | NP_001005741.1:p.Leu483Pro |
| NM_001005742.2:c.1448T>C | NP_001005742.1:p.Leu483Pro | |
| NM_000157.3:c.1448T>C | NP_000148.2:p.Leu483Pro |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.001 |
Prediction
ClinVar
| Clinical Significance | Pathogenic; risk factor |
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
other |
germline
|
MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2020-07-07 | criteria provided, multiple submitters, no conflicts | Gaucher disease type II |
germline
maternal
unknown
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Gaucher disease type III |
biparental
germline
|
Detail | |
|
Pathogenic
|
2021-11-26 | criteria provided, multiple submitters, no conflicts | Gaucher disease type I |
biparental
germline
inherited
unknown
|
Detail |
|
Pathogenic
|
2022-01-03 | criteria provided, multiple submitters, no conflicts | Parkinson disease, late-onset |
germline
|
Detail |
risk factor
|
2013-10-01 | no assertion criteria provided | Dementia, Lewy body, susceptibility to |
germline
|
Detail |
|
Pathogenic
|
2000-03-01 | no assertion criteria provided | Gaucher disease type I |
germline
|
Detail |
|
Pathogenic
|
2000-03-01 | no assertion criteria provided | Gaucher disease type II |
germline
|
Detail |
|
Pathogenic
|
2000-03-01 | no assertion criteria provided | Gaucher disease type III |
germline
|
Detail |
|
Pathogenic
|
2000-03-01 | no assertion criteria provided | Gaucher disease perinatal lethal |
germline
|
Detail |
|
Pathogenic
|
2022-03-05 | criteria provided, multiple submitters, no conflicts | Gaucher disease |
germline
|
Detail |
|
Pathogenic
|
2024-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
risk factor
|
2017-01-01 | criteria provided, single submitter | Movement disorder,Parkinsonian disorder |
unknown
|
Detail |
|
risk factor
|
2017-01-01 | criteria provided, single submitter | Movement disorder,Parkinsonian disorder |
unknown
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Gaucher disease type II,Gaucher disease type III |
germline
|
Detail | |
|
Pathogenic
|
criteria provided, single submitter | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Gaucher disease type II,Gaucher disease type III |
germline
|
Detail | |
|
Pathogenic
|
criteria provided, single submitter | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Gaucher disease type II,Gaucher disease type III |
germline
|
Detail | |
|
Pathogenic
|
criteria provided, single submitter | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Gaucher disease type II,Gaucher disease type III |
germline
|
Detail | |
|
Pathogenic
|
2020-01-21 | criteria provided, multiple submitters, no conflicts | Gaucher disease perinatal lethal |
de novo
germline
unknown
|
Detail |
|
Pathogenic
|
2022-09-15 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-05-03 | criteria provided, single submitter | Parkinson disease, late-onset |
germline
|
Detail |
|
Pathogenic
|
2022-02-08 | criteria provided, single submitter | Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type III |
unknown
|
Detail |
|
Pathogenic
|
2022-02-08 | criteria provided, single submitter | Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type III |
unknown
|
Detail |
|
Pathogenic
|
2022-02-08 | criteria provided, single submitter | Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type III |
unknown
|
Detail |
|
Pathogenic
|
2022-02-08 | criteria provided, single submitter | Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type III |
unknown
|
Detail |
|
Pathogenic
|
2022-02-08 | criteria provided, single submitter | Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type III |
unknown
|
Detail |
|
Pathogenic
|
2022-02-08 | criteria provided, single submitter | Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type III |
unknown
|
Detail |
|
Pathogenic
|
2022-02-08 | criteria provided, single submitter | Gaucher disease perinatal lethal,Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type III |
unknown
|
Detail |
|
Pathogenic
|
2024-01-11 | criteria provided, single submitter | GBA1-related disorder |
germline
|
Detail |
|
Pathogenic
|
2024-03-17 | criteria provided, single submitter | Lewy body dementia |
germline
|
Detail |
|
Pathogenic
|
2022-02-01 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.445 | Gaucher Disease, Type 1 | NA | CLINVAR | Detail | |
| 0.120 | Parkinson disease, late-onset | NA | CLINVAR | Detail | |
| 0.355 | Gaucher disease | NA | CLINVAR | Detail | |
| 0.441 | Gaucher Disease, Type 2 (disorder) | NA | CLINVAR | Detail | |
| 0.441 | Gaucher Disease, Type 3 (disorder) | NA | CLINVAR | Detail | |
| 0.360 | GAUCHER DISEASE, PERINATAL LETHAL | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND Gaucher disease type II | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND Gaucher disease type III | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND Gaucher disease type I | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND Parkinson disease, late-onset | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND Dementia, Lewy body, susceptibility to | ClinVar | Detail |
| NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND Gaucher disease type I | ClinVar | Detail |
| NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND Gaucher disease type II | ClinVar | Detail |
| NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND Gaucher disease type III | ClinVar | Detail |
| NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND Gaucher disease perinatal lethal | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND Gaucher disease | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND not provided | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND Gaucher disease perinatal lethal | ClinVar | Detail |
| NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND not provided | ClinVar | Detail |
| NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND Parkinson disease, late-onset | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND GBA1-related disorder | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND Lewy body dementia | ClinVar | Detail |
| NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) AND not specified | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs421016 dbSNP
- Genome
- hg38
- Position
- chr1:155,235,252-155,235,252
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- VQSRTrancheSNP99.80to99.90
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs421016
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0011
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 19
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8644
- East Asian Allele Counts (ExAC)
- 11
- East Asian Heterozygous Counts (ExAC)
- 11
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0012725590004627487
- Chromosome Counts in All Race (ExAC)
- 121026
- Allele Counts in All Race (ExAC)
- 375
- Heterozygous Counts in All Race (ExAC)
- 375
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.0030985077586634276
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