Overview

Variant ID 24924
Entrez Gene ID 101929282
Gene LOC101929282 (GeneCards)
Location hg19 2:151735518-151735518
hg38 2:150879004-150879004
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000002.11:g.151735518 C>G (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 243199373

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0.00003232
EIGEN score 0.0627
CADD Raw score (version 1.3) 0.212556 (Deleterious)
FATHMM raw prediction score 0.14608 (Tolerated)
Deleterious probability by DeFine 0.5961 (Deleterious)
Entrez Gene ID 101929282 (NCBI Gene)
Official Gene Symbol LOC101929282 (GeneCards)
Number of variants in LOC101929282 in this database 8 (view all the variants)
Full name uncharacterized LOC101929282
Band 2q23.3
Other IDs Ensembl: ENSG00000224048
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