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 9:91737463 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002097

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10987

HGVS names

This variant has 6 HGVS names - Hide

9:g.91737463G>A
ENST00000550066.5:n.1018C>T
ENST00000375715.5:c.130C>T
ENSP00000364867.1:p.Arg44Cys
ENST00000375708.3:c.550C>T
ENSP00000364860.3:p.Arg184Cys

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays