Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 19:1401329 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM065210

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_064_GAMT_601240_0005, 10026

HGVS names

This variant has 5 HGVS names - Hide

19:g.1401329T>G
ENST00000447102.7:c.148A>C
ENSP00000403536.2:p.Met50Leu
ENST00000252288.6:c.148A>C
ENSP00000252288.1:p.Met50Leu

About this variant

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

Variant displays