Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 19:41352804 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002870

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5756, NM_000660.4:c.241T>C, 2010_April_001_107_TGFB1_190180_0004

HGVS names

This variant has 5 HGVS names - Hide

19:g.41352804A>G
ENST00000221930.5:c.241T>C
ENSP00000221930.4:p.Tyr81His
ENST00000539627.5:c.-30+1602A>G
ENST00000604424.1:n.350+1602A>G

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays