Original source

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

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

Chromosome 1:173910861 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM910057, CD952113

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 378

HGVS names

This variant has 8 HGVS names - Hide

1:g.173910861T>C
ENST00000367698.3:c.655A>G
ENSP00000356671.3:p.Asn219Asp
ENST00000487183.1:n.330-24A>G
ENST00000617423.4:c.559+1003A>G
LRG_577:g.11518A>G
LRG_577t1:c.655A>G
LRG_577p1:p.Asn219Asp

About this variant

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

Variant displays