Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variant

HGMD-PUBLIC CM002218

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 379

HGVS names

This variant has 8 HGVS names - Hide

1:g.173910849A>G
ENST00000487183.1:n.330-12T>C
ENST00000367698.3:c.667T>C
ENSP00000356671.3:p.Ser223Pro
ENST00000617423.4:c.559+1015T>C
LRG_577:g.11530T>C
LRG_577t1:c.667T>C
LRG_577p1:p.Ser223Pro

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays