Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.45 (G)
Location

Chromosome 19:41353016 (forward strand) | View in location tab

Co-located

with COSMIC COSM3749514 (G/A) ; HGMD-PUBLIC CM002115

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 8 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

19:g.41353016G>A
ENST00000221930.5:c.29C>T
ENSP00000221930.4:p.Pro10Leu
ENST00000539627.5:c.-30+1814G>A
ENST00000604424.1:n.350+1814G>A

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 2855 sample genotypes, is associated with 4 phenotypes and is mentioned in 185 citations.

Variant displays