chr4:6303408:G>A Detail (hg19) (WFS1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:6,303,408-6,303,408 |
hg38 | chr4:6,301,681-6,301,681 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001145853.1:c.1886G>A | NP_001139325.1:p.Arg629Gln |
NM_006005.3:c.1886G>A | NP_005996.2:p.Arg629Gln | |
Ensemble | ENST00000226760.5:c.1886G>A | ENST00000226760.5:p.Arg629Gln |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
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 |
---|---|---|---|---|---|
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2013-08-06 | criteria provided, single submitter | Rare genetic deafness |
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Detail |
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2023-05-19 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2018-01-05 | criteria provided, single submitter | Monogenic diabetes |
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Detail |
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2021-07-22 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
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2024-03-29 | criteria provided, multiple submitters, no conflicts | Wolfram syndrome 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | DEAFNESS, AUTOSOMAL DOMINANT 6 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) AND Rare genetic deafness | ClinVar | Detail |
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) AND not provided | ClinVar | Detail |
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) AND Monogenic diabetes | ClinVar | Detail |
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) AND Inborn genetic diseases | ClinVar | Detail |
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) AND Wolfram syndrome 1 | ClinVar | 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
- rs146670741 dbSNP
- Genome
- hg19
- Position
- chr4:6,303,408-6,303,408
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8650
- East Asian Allele Counts (ExAC)
- 3
- East Asian Heterozygous Counts (ExAC)
- 3
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 3.468208092485549E-4
- Chromosome Counts in All Race (ExAC)
- 121346
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.2963591712953045E-5
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