chr4:6279306:C>T Detail (hg19) (WFS1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:6,279,306-6,279,306 |
hg38 | chr4:6,277,579-6,277,579 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001145853.1:c.124C>T | NP_001139325.1:p.Arg42Ter |
NM_006005.3:c.124C>T | NP_005996.2:p.Arg42Ter | |
Ensemble | ENST00000226760.5:c.124C>T | ENST00000226760.5:p.Arg42Ter |
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 |
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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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2023-05-22 | criteria provided, multiple submitters, no conflicts | Wolfram syndrome 1 |
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Detail |
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no assertion provided | Autosomal dominant nonsyndromic hearing loss 6,Wolfram syndrome 1,Wolfram-like syndrome |
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Detail | |
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no assertion provided | Autosomal dominant nonsyndromic hearing loss 6,Wolfram syndrome 1,Wolfram-like syndrome |
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Detail | |
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no assertion provided | Autosomal dominant nonsyndromic hearing loss 6,Wolfram syndrome 1,Wolfram-like syndrome |
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Detail | |
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2024-01-02 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2016-01-01 | criteria provided, single submitter | type 2 diabetes mellitus |
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Detail |
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2022-02-18 | criteria provided, single submitter | Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6,Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus |
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Detail |
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2022-02-18 | criteria provided, single submitter | Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6,Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus |
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Detail |
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2022-02-18 | criteria provided, single submitter | Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6,Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus |
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Detail |
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2022-02-18 | criteria provided, single submitter | Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6,Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus |
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Detail |
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2022-02-18 | criteria provided, single submitter | Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6,Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus |
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Detail |
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2021-03-01 | criteria provided, single submitter | Wolfram-like syndrome,Wolfram syndrome 1 |
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Detail |
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2021-03-01 | criteria provided, single submitter | Wolfram-like syndrome,Wolfram syndrome 1 |
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Detail |
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2021-09-30 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
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2022-08-26 | criteria provided, single submitter | WFS1-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.626 | Wolfram syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND Wolfram syndrome 1 | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND multiple conditions | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND multiple conditions | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND multiple conditions | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND not provided | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND Type 2 diabetes mellitus | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND multiple conditions | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND multiple conditions | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND multiple conditions | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND multiple conditions | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND multiple conditions | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND multiple conditions | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND multiple conditions | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND Inborn genetic diseases | ClinVar | Detail |
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) AND WFS1-related disorder | 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
- rs71530923 dbSNP
- Genome
- hg19
- Position
- chr4:6,279,306-6,279,306
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 1992
- 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)
- 29320
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.7053206002728513E-4
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