Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 1:173903902 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920113

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 367

This variant has 5 HGVS names - click the plus to show

1:g.173903902G>A
ENST00000367698.3:c.1382C>T
ENSP00000356671.3:p.Pro461Leu
ENST00000617423.4:c.767C>T
ENSP00000478688.1:p.Pro256Leu

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays