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 6:73615425 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM993213

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12595

HGVS names

This variant has 3 HGVS names - Hide

6:g.73615425G>C
ENST00000355773.5:c.1001C>G
ENSP00000348019.5:p.Pro334Arg

About this variant

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

Variant displays