Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.34 (A)
Location

Chromosome 17:65558473 (forward strand) | View in location tab

Co-located

with COSMIC COSM4000258 (G/A) ; HGMD-PUBLIC CM066739

Most severe consequence
 
Missense variant
Evidence status

This variant has 4 synonyms - click the plus to show

This variant has 21 HGVS names - click the plus to show

17:g.65558473G>A
ENST00000577278.1:c.148C>T
ENSP00000464264.1:p.Pro50Ser
ENST00000307078.9:c.148C>T
ENSP00000302625.5:p.Pro50Ser
ENST00000577662.1:c.*324C>T
ENST00000375702.5:c.148C>T
ENSP00000364854.5:p.Pro50Ser
ENST00000585045.1:c.148C>T
ENSP00000463192.1:p.Pro50Ser
ENST00000618960.4:c.148C>T
ENSP00000478916.1:p.Pro50Ser
ENST00000611991.1:c.148C>T
ENSP00000481191.1:p.Pro50Ser
ENST00000544103.2:c.148C>T
ENSP00000441151.2:p.Pro50Ser
ENST00000580513.1:c.148C>T
ENSP00000463761.1:p.Pro50Ser
LRG_296:g.8150C>T
LRG_296t1:c.148C>T
LRG_296p1:p.Pro50Ser

This variant has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 10 transcripts, 1 regulatory feature, has 3726 sample genotypes, is associated with 1 phenotype and is mentioned in 12 citations.

Variant displays