Original source

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

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

Chromosome 19:41342209 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002414

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5753, 2010_April_001_104_TGFB1_190180_0001, NM_000660.4:c.673T>C

This variant has 5 HGVS names - click the plus to show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays