Overview

Variant ID 25904
Entrez Gene ID 102546299
Gene LOC102546299 (GeneCards)
Location hg19 5:165242465-165242465
hg38 5:165815460-165815460
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000005.9:g.165242465 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 180915260

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.4014
CADD Raw score (version 1.3) -0.147938 (Deleterious)
FATHMM raw prediction score 0.06646 (Tolerated)
Deleterious probability by DeFine 0.3308 (Neutral)
Entrez Gene ID 102546299 (NCBI Gene)
Official Gene Symbol LOC102546299 (GeneCards)
Number of variants in LOC102546299 in this database 26 (view all the variants)
Full name uncharacterized LOC102546299
Band 5q34
Other IDs Ensembl: ENSG00000241956
Other names None
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