Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 17:35577445 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM040240

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

17:g.35577445T>A
ENST00000225873.8:c.273A>T
ENSP00000225873.3:p.Arg91Ser
ENST00000613219.4:c.273A>T
ENSP00000482609.1:p.Arg91Ser
ENST00000585380.1:c.273A>T
ENSP00000466280.1:p.Arg91Ser
ENST00000586663.1:c.273A>T
ENSP00000466894.1:p.Arg91Ser

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays