Overview

Variant ID 27763
Entrez Gene ID 102723968
Gene LOC102723968 (GeneCards)
Location hg19 13:65041224-65041224
hg38 13:64467092-64467092
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000013.10:g.65041224 T>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 115169878

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.1495
CADD Raw score (version 1.3) 0.343524 (Deleterious)
FATHMM raw prediction score 0.09049 (Tolerated)
Deleterious probability by DeFine 0.2969 (Neutral)
Entrez Gene ID 102723968 (NCBI Gene)
Official Gene Symbol LOC102723968 (GeneCards)
Number of variants in LOC102723968 in this database 26 (view all the variants)
Full name uncharacterized LOC102723968
Band 13q21.31
Other IDs Ensembl: ENSG00000219926
Other names None
Summary None

Individual #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID