Original source

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

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

Chromosome 22:19763273 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM033031

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

22:g.19763273T>A
ENST00000332710.8:c.443T>A
ENSP00000331791.4:p.Phe148Tyr
ENST00000475303.1:n.117T>A
ENST00000359500.7:c.443T>A
ENSP00000352483.3:p.Phe148Tyr
ENST00000329705.11:c.443T>A
ENSP00000331176.7:p.Phe148Tyr
ENST00000621939.1:c.443T>A
ENSP00000477982.1:p.Phe148Tyr
LRG_226:g.11571T>A
LRG_226t1:c.443T>A
LRG_226p1:p.Phe148Tyr

About this variant

This variant overlaps 7 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays