chr16:14042077:A>G Detail (hg19) (ERCC4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:14,042,077-14,042,077 |
hg38 | chr16:13,948,220-13,948,220 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005236.2:c.2624A>G | NP_005227.1:p.Glu875Gly |
Ensemble | ENST00000311895.8:c.2624A>G | ENST00000311895.8:p.Glu875Gly |
ENST00000682617.1:c.2762A>G | ENST00000682617.1:p.Glu921Gly |
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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criteria provided, single submitter | not specified |
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Detail | |
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2015-12-11 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2019-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-02-01 | criteria provided, single submitter | Fanconi anemia complementation group Q,Cockayne syndrome,Xeroderma pigmentosum, group F |
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Detail |
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2024-02-01 | criteria provided, single submitter | Fanconi anemia complementation group Q,Cockayne syndrome,Xeroderma pigmentosum, group F |
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Detail |
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2024-02-01 | criteria provided, single submitter | Fanconi anemia complementation group Q,Cockayne syndrome,Xeroderma pigmentosum, group F |
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Detail |
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2023-07-07 | criteria provided, multiple submitters, no conflicts | Xeroderma pigmentosum, group F |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.004 | breast carcinoma | In a nested case-control study of breast cancer in US radiologic technologists e... | BeFree | 18767034 | Detail |
<0.001 | breast carcinoma | In a nested case-control study of breast cancer in US radiologic technologists e... | BeFree | 18767034 | Detail |
0.032 | Malignant neoplasm of breast | In a nested case-control study of breast cancer in US radiologic technologists e... | BeFree | 18767034 | Detail |
0.010 | Malignant neoplasm of breast | In a nested case-control study of breast cancer in US radiologic technologists e... | BeFree | 18767034 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND not specified | ClinVar | Detail |
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND not provided | ClinVar | Detail |
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND multiple conditions | ClinVar | Detail |
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND multiple conditions | ClinVar | Detail |
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND multiple conditions | ClinVar | Detail |
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND Xeroderma pigmentosum, group F | ClinVar | Detail |
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... | DisGeNET | Detail |
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... | DisGeNET | Detail |
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... | DisGeNET | Detail |
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... | 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
- rs1800124 dbSNP
- Genome
- hg19
- Position
- chr16:14,042,077-14,042,077
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8646
- 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)
- 121340
- Allele Counts in All Race (ExAC)
- 1591
- Heterozygous Counts in All Race (ExAC)
- 1557
- Homozygous Counts in All Race (ExAC)
- 17
- Allele Frequency in All Race (ExAC)
- 0.013111916927641338
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