Original source

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

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

Chromosome 4:1003108 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950686

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6452

HGVS names

This variant has 7 HGVS names - Hide

4:g.1003108G>C
ENST00000514224.1:c.1079G>C
ENSP00000425081.1:p.Arg360Pro
ENST00000514698.5:n.1582G>C
ENST00000247933.8:c.1475G>C
ENSP00000247933.4:p.Arg492Pro
ENST00000502829.1:n.277G>C

About this variant

This variant overlaps 11 transcripts and is associated with 2 phenotypes.

Variant displays