chr16:14043014:G>A Detail (hg19) (ERCC4)

Information

Genome

Assembly Position
hg19 chr16:14,043,014-14,043,014
hg38 chr16:13,949,157-13,949,157 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005236.2:c.*810G>A
Ensemble ENST00000311895.8:c.*810G>A
ENST00000682617.1:c.*810G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.238
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
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 tgv54823835 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-13 criteria provided, single submitter Xeroderma pigmentosum, group F germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Xeroderma pigmentosum, group F In conclusion, we found that ERCC1 rs11615 and XPF rs2276465 may substantially c... BeFree 24793015 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005236.3(ERCC4):c.*810G>A AND Xeroderma pigmentosum, group F ClinVar Detail
In conclusion, we found that ERCC1 rs11615 and XPF rs2276465 may substantially contribute to the fut... 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
rs2276465 dbSNP
Genome
hg19
Position
chr16:14,043,014-14,043,014
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2276465
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2376
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3983
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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