Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 6:73638477 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM993212

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12594

HGVS names

This variant has 4 HGVS names - Hide

6:g.73638477T>C
ENST00000355773.5:c.548A>G
ENSP00000348019.5:p.His183Arg
ENST00000481996.1:n.314A>G

About this variant

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

Variant displays