Original source

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

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

Chromosome 7:100633515 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM011819

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_003227.3:c.515T>A, 12813

This variant has 10 HGVS names - click the plus to show

7:g.100633515A>T
ENST00000475011.1:n.44T>A
ENST00000465294.5:n.520T>A
ENST00000431692.5:c.515T>A
ENSP00000413905.1:p.Met172Lys
ENST00000476304.5:n.136T>A
ENST00000462107.1:c.515T>A
ENSP00000420525.1:p.Met172Lys
ENST00000223051.7:c.515T>A
ENSP00000223051.3:p.Met172Lys

About this variant

This variant overlaps 11 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays