This variant has been flagged

Variation has more than 3 different alleles

Original source

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

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

Chromosome 19:41342215 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM041084, CM041083

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 9 synonyms - Show

HGVS names

This variant has 15 HGVS names - Hide

Variant allele T
19:g.41342215A>T
ENST00000597453.1:n.198T>A
ENST00000221930.5:c.667T>A
ENSP00000221930.4:p.Cys223Ser
ENST00000600196.1:n.127T>A

Variant allele C
19:g.41342215A>C
ENST00000597453.1:n.198T>G
ENST00000221930.5:c.667T>G
ENSP00000221930.4:p.Cys223Gly
ENST00000600196.1:n.127T>G

Variant allele G
19:g.41342215A>G
ENST00000597453.1:n.198T>C
ENST00000221930.5:c.667T>C
ENSP00000221930.4:p.Cys223Arg
ENST00000600196.1:n.127T>C

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays