Overview

Variant ID 19246
Entrez Gene ID 79895
Gene ATP8B4 (GeneCards)
Location hg19 15:50419094-50419094
hg38 15:50126897-50126897
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000015.9:g.50419094 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 102531392

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.0822
CADD Raw score (version 1.3) 0.572858 (Deleterious)
FATHMM raw prediction score 0.18616 (Tolerated)
Deleterious probability by DeFine 0.0837 (Neutral)
Entrez Gene ID 79895 (NCBI Gene)
Official Gene Symbol ATP8B4 (GeneCards)
Number of variants in ATP8B4 in this database 6 (view all the variants)
Full name ATPase phospholipid transporting 8B4 (putative)
Band 15q21.2
Other IDs Vega: OTTHUMG00000172368
OMIM: 609123
HGNC: HGNC:13536
Ensembl: ENSG00000104043
Other names ATPIM
Summary This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Individual #1

Individual ID 29217584.19 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Cockayne syndrome (view all the variants in this disease)
OMIM ID 216400

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;