Overview

Variant ID 24899
Entrez Gene ID 400940
Gene LOC400940 (GeneCards)
Location hg19 2:6432533-6432533
hg38 2:6292401-6292401
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000002.11:g.6432533 A>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
EIGEN score -0.3449
CADD Raw score (version 1.3) -0.011055 (Deleterious)
FATHMM raw prediction score 0.06273 (Tolerated)
Deleterious probability by DeFine 0.0818 (Neutral)
Entrez Gene ID 400940 (NCBI Gene)
Official Gene Symbol LOC400940 (GeneCards)
Number of variants in LOC400940 in this database 6 (view all the variants)
Full name uncharacterized LOC400940
Band 2p25.2
Other IDs None:
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