Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K | MAF: 0.31 (T)
Location

Chromosome 15:73927205 (forward strand) | View in location tab

Co-located

with COSMIC COSM3749312 (G/T) ; HGMD-PUBLIC CM074329

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

15:g.73927205G>T
ENST00000564963.1:n.42+449C>A
ENST00000565756.5:n.183+572C>A
ENST00000562965.1:n.184+572C>A
ENST00000566011.5:c.422G>T
ENSP00000457827.1:p.Arg141Leu
ENST00000564194.5:n.184+860C>A
ENST00000565416.1:n.164+572C>A
ENST00000566675.5:n.139+860C>A
ENST00000568087.5:n.166+572C>A
ENST00000261921.7:c.422G>T
ENSP00000261921.7:p.Arg141Leu
ENST00000567257.5:n.133+449C>A
ENST00000562739.5:n.42+449C>A

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 14 transcripts, 1 regulatory feature, has 2507 sample genotypes, is associated with 2 phenotypes and is mentioned in 73 citations.

Variant displays