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 8:22164028 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM093906

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5087

HGVS names

This variant has 9 HGVS names - Hide

8:g.22164028T>C
ENST00000521315.5:c.563T>C
ENSP00000430410.1:p.Leu188Pro
ENST00000520605.5:c.277-238T>C
ENST00000437090.6:c.*208T>C
ENST00000524255.5:c.422T>C
ENSP00000429552.1:p.Leu141Pro
ENST00000318561.7:c.581T>C
ENSP00000316152.3:p.Leu194Pro

About this variant

This variant overlaps 24 transcripts and is associated with 2 phenotypes.

Variant displays