Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 6:73644583 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM993211

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12591, NM_012434.4:c.115C>T

HGVS names

This variant has 3 HGVS names - Hide

6:g.73644583G>A
ENST00000355773.5:c.115C>T
ENSP00000348019.5:p.Arg39Cys

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 5 citations.

Variant displays