Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 17:41612309 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3517504 ; HGMD-PUBLIC CM994216 ; PhenCode HIFD_KRT16:c.380G>C (C/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

Variant allele T
17:g.41612309C>T
ENST00000588319.1:n.457G>A
ENST00000593067.1:c.-312-23G>A
ENST00000301653.8:c.380G>A
ENSP00000301653.3:p.Arg127His

Variant allele G
17:g.41612309C>G
ENST00000588319.1:n.457G>C
ENST00000593067.1:c.-312-23G>C
ENST00000301653.8:c.380G>C
ENSP00000301653.3:p.Arg127Pro

About this variant

This variant overlaps 8 transcripts and is associated with 4 phenotypes.

Variant displays