Original source

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

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

Chromosome 4:145646043 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM043528

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_042_MMAA_607481_0004, 14929

HGVS names

This variant has 9 HGVS names - Hide

4:g.145646043A>G
ENST00000506919.1:n.1108A>G
ENST00000281317.9:c.620A>G
ENSP00000281317.5:p.Tyr207Cys
ENST00000511969.4:c.620A>G
ENSP00000427422.1:p.Tyr207Cys
ENST00000541599.4:c.620A>G
ENSP00000442284.2:p.Tyr207Cys
ENST00000504555.1:n.254-3216T>C

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays