Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S
Location

Chromosome 4:1003418 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM920373, CM981063

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6444

HGVS names

This variant has 6 HGVS names - Hide

4:g.1003418C>G
ENST00000514224.1:c.1202C>G
ENSP00000425081.1:p.Pro401Arg
ENST00000514698.5:n.1705C>G
ENST00000247933.8:c.1598C>G
ENSP00000247933.4:p.Pro533Arg

About this variant

This variant overlaps 11 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays