chr1:155205518:C>G Detail (hg19) (GBA1, LOC106627981)

Information

Genome

Assembly Position
hg19 chr1:155,205,518-155,205,518
hg38 chr1:155,235,727-155,235,727 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001005741.2:c.1342G>C NP_001005741.1:p.Asp448His
NM_001005742.2:c.1342G>C NP_001005742.1:p.Asp448His
NM_000157.3:c.1342G>C NP_000148.2:p.Asp448His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 606463 OMIM
HGNC 4177 HGNC
Ensembl ENSG00000177628 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3325713 TogoVar
COSMIC COSM3418116 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-04-05 criteria provided, single submitter Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome germline Detail
Pathogenic Likely pathogenic 2023-08-19 criteria provided, multiple submitters, no conflicts Gaucher disease type I germline maternal unknown Detail
Pathogenic 2016-04-05 criteria provided, single submitter Gaucher disease type II germline Detail
Pathogenic 2008-07-01 no assertion criteria provided Gaucher disease type III germline Detail
Pathogenic 2020-04-01 criteria provided, multiple submitters, no conflicts Gaucher disease perinatal lethal germline unknown Detail
Pathogenic 2005-04-01 no assertion criteria provided Gaucher disease type II germline Detail
Pathogenic 2005-04-01 no assertion criteria provided Gaucher disease type III germline Detail
Pathogenic 2020-01-22 criteria provided, multiple submitters, no conflicts Gaucher disease germline Detail
Pathogenic 2024-01-23 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-12-16 criteria provided, single submitter Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Lewy body dementia,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I unknown Detail
Pathogenic 2021-12-16 criteria provided, single submitter Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Lewy body dementia,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I unknown Detail
Pathogenic 2021-12-16 criteria provided, single submitter Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Lewy body dementia,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I unknown Detail
Pathogenic 2021-12-16 criteria provided, single submitter Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Lewy body dementia,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I unknown Detail
Pathogenic 2021-12-16 criteria provided, single submitter Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Lewy body dementia,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I unknown Detail
Pathogenic 2021-12-16 criteria provided, single submitter Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Lewy body dementia,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I unknown Detail
Pathogenic 2021-12-16 criteria provided, single submitter Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Lewy body dementia,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type I unknown Detail
Pathogenic criteria provided, single submitter Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Gaucher disease type III germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Gaucher disease type III germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Gaucher disease type III germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Gaucher disease type III germline Detail
Pathogenic 2024-03-17 criteria provided, multiple submitters, no conflicts Parkinson disease, late-onset germline Detail
Pathogenic 2015-10-13 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
0.355 Gaucher disease NA CLINVAR Detail
0.240 Gaucher Disease, Type Iiic 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
0.445 Gaucher Disease, Type 1 Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic G... UNIPROT 10360404 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND Gaucher disease-ophthalmoplegia-cardiovascular calcifi... ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND Gaucher disease type I ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND Gaucher disease type II ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND Gaucher disease type III ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND Gaucher disease perinatal lethal ClinVar Detail
NM_001005741.2(GBA1):c.[880T>G;1342G>C] AND Gaucher disease type II ClinVar Detail
NM_001005741.2(GBA1):c.[880T>G;1342G>C] AND Gaucher disease type III ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND Gaucher disease ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND not provided ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND Parkinson disease, late-onset ClinVar Detail
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) AND not specified ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patie... 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
rs1064651 dbSNP
Genome
hg19
Position
chr1:155,205,518-155,205,518
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
93.66
Standard deviation of sample read depth (HGVD)
41.44
Number of reference allele (HGVD)
2412
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.285004142502071E-4
Gene Symbol (HGVD)
GBA
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))
rs1064651
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7160
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
100268
Allele Counts in All Race (ExAC)
11
Heterozygous Counts in All Race (ExAC)
11
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.0970598795228787E-4
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