Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 9:104822521 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM023598

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

9:g.104822521T>G
ENST00000374736.7:c.2803A>C
ENSP00000363868.3:p.Asn935His

About this variant

This variant overlaps 2 transcripts and is associated with 3 phenotypes.

Variant displays