Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 13:110307027 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM061690

Most severe consequence
 
Start lost
Evidence status

Clinical significance

Synonyms

LSDB NM_001845.4:c.1A>T, 958

HGVS names

This variant has 6 HGVS names - Hide

13:g.110307027T>A
ENST00000375820.8:c.1A>T
ENSP00000364979.4:p.Met1?
ENST00000400163.6:c.-44-833T>A
ENST00000543140.5:c.1A>T
ENSP00000443348.1:p.Met1?

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays