Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 19:43527175 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM040416

Most severe consequence
 
Start lost
Evidence status

Clinical significance

Synonyms

LSDB 15716

This variant has 13 HGVS names - click the plus to show

19:g.43527175C>A
ENST00000458714.2:c.135+549C>A
ENST00000595115.1:n.56G>T
ENST00000594342.5:c.3G>T
ENSP00000469652.1:p.Met1?
ENST00000292147.6:c.3G>T
ENSP00000292147.1:p.Met1?
ENST00000598330.1:c.3G>T
ENSP00000469219.1:p.Met1?
ENST00000600651.5:c.3G>T
ENSP00000469037.1:p.Met1?
ENST00000602138.1:c.3G>T
ENSP00000468964.1:p.Met1?

About this variant

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

Variant displays