chr16:13948101:T>C Detail (hg38) (ERCC4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:14,041,958-14,041,958 View the variant detail on this assembly version. |
hg38 | chr16:13,948,101-13,948,101 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005236.2:c.2505T>C | NP_005227.1:p.Ser835= |
Ensemble | ENST00000311895.8:c.2505T>C | ENST00000311895.8:p.Ser835= |
ENST00000682617.1:c.2643T>C | ENST00000682617.1:p.Ser881= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.251 |
ToMMo:0.241 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.235 |
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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2023-07-07 | criteria provided, multiple submitters, no conflicts | 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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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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2019-02-26 | criteria provided, single submitter | not provided |
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Detail |
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2021-07-30 | criteria provided, single submitter | XFE progeroid syndrome |
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Detail |
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2021-07-30 | criteria provided, single submitter | Fanconi anemia complementation group Q |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Squamous cell carcinoma of oropharynx | Our findings suggest that the ERCC4 T2505C polymorphism may be associated with i... | BeFree | 15936543 | Detail |
0.005 | breast carcinoma | We evaluated associations between seven single-nucleotide polymorphisms in four ... | BeFree | 21622940 | Detail |
0.018 | breast carcinoma | We evaluated associations between seven single-nucleotide polymorphisms in four ... | BeFree | 21622940 | Detail |
0.098 | Malignant neoplasm of breast | We evaluated associations between seven single-nucleotide polymorphisms in four ... | BeFree | 21622940 | Detail |
0.002 | breast carcinoma | We evaluated associations between seven single-nucleotide polymorphisms in four ... | BeFree | 21622940 | Detail |
0.026 | Malignant neoplasm of breast | We evaluated associations between seven single-nucleotide polymorphisms in four ... | BeFree | 21622940 | Detail |
0.023 | Malignant neoplasm of breast | We evaluated associations between seven single-nucleotide polymorphisms in four ... | BeFree | 21622940 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) AND not specified | ClinVar | Detail |
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) AND Xeroderma pigmentosum, group F | ClinVar | Detail |
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) AND multiple conditions | ClinVar | Detail |
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) AND multiple conditions | ClinVar | Detail |
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) AND multiple conditions | ClinVar | Detail |
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) AND not provided | ClinVar | Detail |
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) AND XFE progeroid syndrome | ClinVar | Detail |
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) AND Fanconi anemia complementation group Q | ClinVar | Detail |
Our findings suggest that the ERCC4 T2505C polymorphism may be associated with improved recovery fro... | DisGeNET | Detail |
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... | DisGeNET | Detail |
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... | DisGeNET | Detail |
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... | DisGeNET | Detail |
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... | DisGeNET | Detail |
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... | DisGeNET | Detail |
We evaluated associations between seven single-nucleotide polymorphisms in four DNA repair genes (ER... | 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
- rs1799801 dbSNP
- Genome
- hg38
- Position
- chr16:13,948,101-13,948,101
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 153.49
- Standard deviation of sample read depth (HGVD)
- 70.98
- Number of reference allele (HGVD)
- 1812
- Number of alternative allele (HGVD)
- 608
- Allele Frequency (HGVD)
- 0.2512396694214876
- Gene Symbol (HGVD)
- ERCC4
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1799801
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2405
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4030
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8612
- East Asian Allele Counts (ExAC)
- 2026
- East Asian Heterozygous Counts (ExAC)
- 1576
- East Asian Homozygous Counts (ExAC)
- 225
- East Asian Allele Frequency (ExAC)
- 0.23525313516024152
- Chromosome Counts in All Race (ExAC)
- 121226
- Allele Counts in All Race (ExAC)
- 33007
- Heterozygous Counts in All Race (ExAC)
- 23795
- Homozygous Counts in All Race (ExAC)
- 4606
- Allele Frequency in All Race (ExAC)
- 0.27227657433223895
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