Overview

Variant ID 16100
Entrez Gene ID 9169
Gene SCAF11 (GeneCards)
Location hg19 12:46539871-46539871
hg38 12:46146088-46146088
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000012.11:g.46539871 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 133851895

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.052
CADD Raw score (version 1.3) 0.130586 (Deleterious)
FATHMM raw prediction score 0.21471 (Tolerated)
Deleterious probability by DeFine 0.455 (Neutral)
Entrez Gene ID 9169 (NCBI Gene)
Official Gene Symbol SCAF11 (GeneCards)
Number of variants in SCAF11 in this database 4 (view all the variants)
Full name SR-related CTD associated factor 11
Band 12q12
Other IDs Vega: OTTHUMG00000149930
OMIM: 603668
HGNC: HGNC:10784
Ensembl: ENSG00000139218
Other names SIP1, CASP11, SFRS2IP, SRRP129, SRSF2IP
Summary None

Individual #1

Individual ID 29217584.03 (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;