Original source

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

Alleles
A/C|Ancestral: A|Ambiguity code: M
Location

Chromosome 19:17881961 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM971393

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10646

HGVS names

This variant has 3 HGVS names - Hide

19:g.17881961A>C
ENST00000222248.3:c.1060A>C
ENSP00000222248.2:p.Thr354Pro

About this variant

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

Variant displays