Original source

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

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

Chromosome 17:35575913 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM045955

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

17:g.35575913G>A
ENST00000225873.8:c.949C>T
ENSP00000225873.3:p.Leu317Phe
ENST00000613219.4:c.949C>T
ENSP00000482609.1:p.Leu317Phe
ENST00000586663.1:c.949C>T
ENSP00000466894.1:p.Leu317Phe

About this variant

This variant overlaps 7 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays