Overview

Variant ID 10291
Entrez Gene ID 154150
Gene HDGFL1 (GeneCards)
Location hg19 6:23083589-23083589
hg38 6:23083361-23083361
Disease Xeroderma Pigmentosum (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000006.11:g.23083589 G>A (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 171115067

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2967
CADD Raw score (version 1.3) -0.103805 (Deleterious)
FATHMM raw prediction score 0.04569 (Tolerated)
Deleterious probability by DeFine 0.3305 (Neutral)
Entrez Gene ID 154150 (NCBI Gene)
Official Gene Symbol HDGFL1 (GeneCards)
Number of variants in HDGFL1 in this database 17 (view all the variants)
Full name HDGF like 1
Band 6p22.3
Other IDs Vega: OTTHUMG00000016206
HGNC: HGNC:21095
Ensembl: ENSG00000112273
Other names HRP-1, PWWP1, Hdgfrp1, dJ309H15.1
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;