Original source

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

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

Chromosome 5:132369975 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM051221

Most severe consequence
 
Start lost
Evidence status

Clinical significance

Synonyms

LSDB 11847

This variant has 7 HGVS names - click the plus to show

5:g.132369975G>T
ENST00000435065.6:c.3G>T
ENSP00000402760.2:p.Met1?
ENST00000245407.7:c.3G>T
ENSP00000245407.3:p.Met1?
ENST00000437841.6:c.3G>T
ENSP00000400553.1:p.Met1?

About this variant

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

Variant displays