Overview

Variant ID 25708
Entrez Gene ID 101928622
Gene LOC101928622 (GeneCards)
Location hg19 4:34097492-34097492
hg38 4:34095870-34095870
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000004.11:g.34097492 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 191154276

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.5124
CADD Raw score (version 1.3) -0.121431 (Deleterious)
FATHMM raw prediction score 0.05562 (Tolerated)
Deleterious probability by DeFine 0.2483 (Neutral)
Entrez Gene ID 101928622 (NCBI Gene)
Official Gene Symbol LOC101928622 (GeneCards)
Number of variants in LOC101928622 in this database 37 (view all the variants)
Full name uncharacterized LOC101928622
Band 4p15.1
Other IDs Ensembl: ENSG00000250954
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