Original source

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

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

Chromosome 1:173910849 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002218

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 379

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

1:g.173910849A>G
ENST00000367698.3:c.667T>C
ENSP00000356671.3:p.Ser223Pro
ENST00000487183.1:n.330-12T>C
ENST00000617423.4:c.559+1015T>C

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays