Original source

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

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

Chromosome 1:17027802 (forward strand)|View in location tab

Co-located variants

COSMIC COSM5019672 ; HGMD-PUBLIC CM056695

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 12 HGVS names - Hide

1:g.17027802A>G
ENST00000475506.1:n.404T>C
ENST00000491274.5:c.445T>C
ENSP00000480482.1:p.Ser149Pro
ENST00000485515.5:n.421T>C
ENST00000375499.7:c.487T>C
ENSP00000364649.3:p.Ser163Pro
ENST00000463045.2:c.316T>C
ENSP00000481376.1:p.Ser106Pro
LRG_316:g.31369T>C
LRG_316t1:c.487T>C
LRG_316p1:p.Ser163Pro

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature, has 2528 sample genotypes, is associated with 6 phenotypes and is mentioned in 7 citations.

Variant displays