Overview

Variant ID 28835
Entrez Gene ID 286499
Gene FAM133A (GeneCards)
Location hg19 X:93727199-93727199
hg38 X:94472200-94472200
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000023.10:g.93727199 C>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 155270560

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
CADD Raw score (version 1.3) -0.632347 (Deleterious)
FATHMM raw prediction score 0.03389 (Tolerated)
Deleterious probability by DeFine 0.1562 (Neutral)
Entrez Gene ID 286499 (NCBI Gene)
Official Gene Symbol FAM133A (GeneCards)
Number of variants in FAM133A in this database 20 (view all the variants)
Full name family with sequence similarity 133 member A
Band Xq21.32
Other IDs Vega: OTTHUMG00000021975
HGNC: HGNC:26748
Ensembl: ENSG00000179083
Other names CT115
Summary None

Individual #1

Individual ID 29217587.02 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID