Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 9:104818830 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM021044

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

Variant allele A
9:g.104818830C>A
ENST00000374736.7:c.3295G>T
ENSP00000363868.3:p.Asp1099Tyr

Variant allele T
9:g.104818830C>T
ENST00000374736.7:c.3295G>A
ENSP00000363868.3:p.Asp1099Asn

About this variant

This variant overlaps 2 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays