Overview

Variant ID 28866
Entrez Gene ID 101928201
Gene LOC101928201 (GeneCards)
Location hg19 X:5666097-5666097
hg38 X:5748056-5748056
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000023.10:g.5666097 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 155270560

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
CADD Raw score (version 1.3) 0.060788 (Deleterious)
FATHMM raw prediction score 0.11207 (Tolerated)
Deleterious probability by DeFine 0.4948 (Neutral)
Entrez Gene ID 101928201 (NCBI Gene)
Official Gene Symbol LOC101928201 (GeneCards)
Number of variants in LOC101928201 in this database 13 (view all the variants)
Full name uncharacterized LOC101928201
Band Xp22.32
Other IDs Ensembl: ENSG00000236513
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