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 1:173903968 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM880013

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 351

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

1:g.173903968G>A
ENST00000367698.3:c.1316C>T
ENSP00000356671.3:p.Pro439Leu
ENST00000617423.3:c.701C>T
ENSP00000478688.1:p.Pro234Leu

About this variant

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

Variation displays