Overview

Variant ID 23748
Entrez Gene ID 221178
Gene SPATA13 (GeneCards)
Location hg19 13:24628692-24628692
hg38 13:24054553-24054553
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000013.10:g.24628692 A>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 115169878

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3645
CADD Raw score (version 1.3) -0.516013 (Deleterious)
FATHMM raw prediction score 0.06786 (Tolerated)
Deleterious probability by DeFine 0.1975 (Neutral)
Entrez Gene ID 221178 (NCBI Gene)
Official Gene Symbol SPATA13 (GeneCards)
Number of variants in SPATA13 in this database 4 (view all the variants)
Full name spermatogenesis associated 13
Band 13q12.12
Other IDs Vega: OTTHUMG00000186016
OMIM: 613324
HGNC: HGNC:23222
Ensembl: ENSG00000273167
Other names ASEF2, ARHGEF29
Summary None

Individual #1

Individual ID 29217587.01 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217587

Pubmed ID 29217587
Title Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.
Journal Science
Publication date 2018.02
Disease Asymptomatic
Number of cases cases of unknown sex: 3;