Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 1:55052400 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM031325

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

1:g.55052400T>C
ENST00000490692.1:n.1467T>C
ENST00000302118.5:c.646T>C
ENSP00000303208.5:p.Phe216Leu
LRG_275:g.17854T>C
LRG_275t1:c.646T>C
LRG_275p1:p.Phe216Leu

About this variant

This variant overlaps 3 transcripts and is associated with 3 phenotypes.

Variant displays