Original source

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

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

Chromosome 9:108894062 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM030891

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12149

HGVS names

This variant has 8 HGVS names - Hide

9:g.108894062G>A
ENST00000374647.9:c.2741C>T
ENSP00000363779.5:p.Pro914Leu
ENST00000537196.1:c.1694C>T
ENSP00000439367.1:p.Pro565Leu
LRG_251:g.45267C>T
LRG_251t1:c.2741C>T
LRG_251p1:p.Pro914Leu

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays