Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 8:43173740 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM065256

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16744

This variant has 6 HGVS names - click the plus to show

8:g.43173740C>T
ENST00000522082.5:c.89C>T
ENSP00000430151.1:p.Pro30Leu
ENST00000379644.8:c.848C>T
ENSP00000368965.4:p.Pro283Leu
ENST00000520704.1:c.*297C>T

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays