chr10:54531242:G>A Detail (hg19) (MBL2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:54,531,242-54,531,242 |
| hg38 | chr10:52,771,482-52,771,482 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000242.2:c.154C>T | NP_000233.1:p.Arg52Cys |
| Ensemble | ENST00000675947.1:c.154C>T | ENST00000675947.1:p.Arg52Cys |
| ENST00000373968.3:c.154C>T | ENST00000373968.3:p.Arg52Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2024-03-26 | criteria provided, conflicting interpretations | Mannose-binding lectin deficiency |
germline
|
Detail |
risk factor
|
2019-04-01 | no assertion criteria provided | cystic fibrosis |
germline
|
Detail |
|
Conflicting interpretations of pathogenicity
|
2024-01-18 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | peritonitis | We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs... | BeFree | 25969530 | Detail |
| 0.001 | Community acquired pneumonia | We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs... | BeFree | 25969530 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) AND Mannose-binding lectin deficiency | ClinVar | Detail |
| NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) AND Cystic fibrosis | ClinVar | Detail |
| NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) AND not provided | ClinVar | Detail |
| We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs; rs5030737, rs18004... | DisGeNET | Detail |
| We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs; rs5030737, rs18004... | 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
- rs5030737 dbSNP
- Genome
- hg19
- Position
- chr10:54,531,242-54,531,242
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 807
- Mean of sample read depth (HGVD)
- 10.36
- Standard deviation of sample read depth (HGVD)
- 20.24
- Number of reference allele (HGVD)
- 1613
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 6.195786864931846E-4
- Gene Symbol (HGVD)
- MBL2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Allele Frequency (ExAC)
- 2.311604253351826E-4
- Chromosome Counts in All Race (ExAC)
- 121374
- Allele Counts in All Race (ExAC)
- 6912
- Heterozygous Counts in All Race (ExAC)
- 6358
- Homozygous Counts in All Race (ExAC)
- 277
- Allele Frequency in All Race (ExAC)
- 0.05694794601809284
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