This variant has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/A/G/T | Ancestral: C | Ambiguity code: N
Location

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

Co-located

with HGMD-PUBLIC CM021044

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

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

Variant allele G
9:g.104818830C>G
ENST00000374736.7:c.3295G>C
ENSP00000363868.3:p.Asp1099His

About this variant

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

Variant displays