Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 19:18599720 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM030430

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_004750.4:c.242G>A, 2010_April_001_023_CRLF1_604237_0002

HGVS names

This variant has 4 HGVS names - Show

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays