Overview

Variant ID 7394
Entrez Gene ID 403315
Gene FAM92A1P2 (GeneCards)
Location hg19 4:183968965-183968965
hg38 4:183047812-183047812
Disease Xeroderma Pigmentosum (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000004.11:g.183968965 C>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 191154276

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.4802
CADD Raw score (version 1.3) -0.118034 (Deleterious)
FATHMM raw prediction score 0.04473 (Tolerated)
Deleterious probability by DeFine 0.1752 (Neutral)
Entrez Gene ID 403315 (NCBI Gene)
Official Gene Symbol FAM92A1P2 (GeneCards)
Number of variants in FAM92A1P2 in this database 1 (view all the variants)
Full name family with sequence similarity 92, member A3
Band 4q35.1
Other IDs HGNC: HGNC:32287
Ensembl: ENSG00000230219
Other names FAM92A3
Summary None

Individual #1

Individual ID 29217584.23 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Xeroderma Pigmentosum (view all the variants in this disease)
OMIM ID 278700

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;