chr16:13926630:G>A Detail (hg38) (ERCC4)

Information

Genome

Assembly Position
hg19 chr16:14,020,487-14,020,487 View the variant detail on this assembly version.
hg38 chr16:13,926,630-13,926,630

HGVS

Type Transcript Protein
RefSeq NM_005236.2:c.458G>A NP_005227.1:p.Arg153His
Ensemble ENST00000311895.8:c.458G>A ENST00000311895.8:p.Arg153His
ENST00000575156.5:c.458G>A ENST00000575156.5:p.Arg153His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 133520 OMIM
HGNC 3436 HGNC
Ensembl ENSG00000175595 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv54822753 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-09-23 criteria provided, single submitter Cockayne syndrome,Xeroderma pigmentosum, group F,Fanconi anemia complementation group Q germline Detail
Uncertain significance 2022-09-23 criteria provided, single submitter Cockayne syndrome,Xeroderma pigmentosum, group F,Fanconi anemia complementation group Q germline Detail
Uncertain significance 2022-09-23 criteria provided, single submitter Cockayne syndrome,Xeroderma pigmentosum, group F,Fanconi anemia complementation group Q germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 xeroderma pigmentosum In an attempt to determine how mutations in XPF can lead to such diverse symptom... BeFree 20221251 Detail
<0.001 progeria In an attempt to determine how mutations in XPF can lead to such diverse symptom... BeFree 20221251 Detail
0.360 XFE progeroid syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005236.3(ERCC4):c.458G>A (p.Arg153His) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.458G>A (p.Arg153His) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.458G>A (p.Arg153His) AND multiple conditions ClinVar Detail
In an attempt to determine how mutations in XPF can lead to such diverse symptoms, the effects of a ... DisGeNET Detail
In an attempt to determine how mutations in XPF can lead to such diverse symptoms, the effects of a ... DisGeNET 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
-
Genome
hg38
Position
chr16:13,926,630-13,926,630
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
187.42
Standard deviation of sample read depth (HGVD)
79.19
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
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))
rs121913050
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3110700254217703E-4
Chromosome Counts in All Race (ExAC)
121408
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)
3.2946758039008963E-5
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