Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: 0.25 (A)
Location

Chromosome 4:41257616 (forward strand) | View in location tab

Co-located

with COSMIC COSM4159070 (C/A) ; HGMD-PUBLIC CM994452

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 18 HGVS names - click the plus to show

4:g.41257616C>A
ENST00000504818.5:n.320C>A
ENST00000512788.1:c.53C>A
ENSP00000423623.1:p.Ser18Tyr
ENST00000508768.5:c.53C>A
ENSP00000426895.1:p.Ser18Tyr
ENST00000512419.5:c.52C>A
ENSP00000425714.1:p.Pro18Thr
ENST00000514924.5:c.53C>A
ENSP00000426634.1:p.Ser18Tyr
ENST00000472501.5:n.577C>A
ENST00000381760.8:n.604C>A
ENST00000503431.5:c.53C>A
ENSP00000422542.1:p.Ser18Tyr
ENST00000284440.8:c.53C>A
ENSP00000284440.4:p.Ser18Tyr
ENST00000505232.5:c.53C>A
ENSP00000423348.1:p.Ser18Tyr

Genotyping chips

This variant has assays on: 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 9 citations.

Variant displays