Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 17:41612294 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950727 ; PhenCode HIFD_KRT16:c.395T>C (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

17:g.41612294A>G
ENST00000588319.1:n.472T>C
ENST00000593067.1:c.-312-8T>C
ENST00000301653.8:c.395T>C
ENSP00000301653.3:p.Leu132Pro

About this variant

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

Variant displays