Overview

Variant ID 2201
Entrez Gene ID 353299
Gene RGSL1 (GeneCards)
Location hg19 1:182457081-182457081
hg38 1:182487946-182487946
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000001.10:g.182457081 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 249250621

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.3004
CADD Raw score (version 1.3) 1.58065 (Deleterious)
FATHMM raw prediction score 0.13086 (Tolerated)
Deleterious probability by DeFine 0.4759 (Neutral)
Entrez Gene ID 353299 (NCBI Gene)
Official Gene Symbol RGSL1 (GeneCards)
Number of variants in RGSL1 in this database 3 (view all the variants)
Full name regulator of G protein signaling like 1
Band 1q25.3
Other IDs Vega: OTTHUMG00000035217
OMIM: 611012
HGNC: HGNC:18636
Ensembl: ENSG00000121446
Other names RGSL, RGSL2
Summary None

Individual #1

Individual ID 29217584.10 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

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;