Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

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

Co-located

with HGMD-PUBLIC CM061690

Most severe consequence
Evidence status

Clinical significance

Synonyms

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

This variation has 6 HGVS names - click the plus to show

13:g.110307027T>A
ENST00000375820.7:c.1A>T
ENSP00000364979.4:p.Met1?
ENST00000400163.5:c.-44-833T>A
ENST00000543140.4:c.1A>T
ENSP00000443348.1:p.Met1?

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variation displays