Overview

Variant ID 25705
Entrez Gene ID 339975
Gene LOC339975 (GeneCards)
Location hg19 4:188333345-188333345
hg38 4:187412191-187412191
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000004.11:g.188333345 G>T (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 -0.1702
CADD Raw score (version 1.3) 0.109633 (Deleterious)
FATHMM raw prediction score 0.14601 (Tolerated)
Deleterious probability by DeFine 0.5092 (Deleterious)
Entrez Gene ID 339975 (NCBI Gene)
Official Gene Symbol LOC339975 (GeneCards)
Number of variants in LOC339975 in this database 5 (view all the variants)
Full name uncharacterized LOC339975
Band 4q35.2
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