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 3:197951244 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CS087979

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5289, NM_000996.2:c.97G>A

HGVS names

This variant has 17 HGVS names - Hide

3:g.197951244G>A
ENST00000439255.1:c.97G>A
ENSP00000410683.1:p.Val33Ile
ENST00000265239.10:c.-59-5558C>T
ENST00000480302.5:n.313-5558C>T
ENST00000464167.5:c.97G>A
ENSP00000419117.1:p.Val33Ile
ENST00000448864.5:c.97G>A
ENSP00000393393.1:p.Val33Ile
ENST00000496582.5:n.158G>A
ENST00000485439.5:n.161G>A
ENST00000442341.5:c.97G>A
ENSP00000387688.1:p.Val33Ile
ENST00000329092.12:n.158G>A
ENST00000429437.5:c.97G>A
ENSP00000398058.1:p.Val33Ile
ENST00000416896.1:c.-49-7193C>T

About this variant

This variant overlaps 16 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays