Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 7:30974112 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM010309

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2344

HGVS names

This variant has 13 HGVS names - Hide

7:g.30974112T>G
ENST00000409904.7:c.533T>G
ENSP00000387113.3:p.Phe178Cys
ENST00000489974.5:n.498T>G
ENST00000337750.9:c.175-317T>G
ENST00000409316.5:c.51-317T>G
ENST00000461390.1:n.193T>G
ENST00000611037.1:c.171T>G
ENST00000611037.1:c.171T>G(p.=)
ENST00000461424.5:n.301T>G
ENST00000396227.6:c.406-317T>G
ENST00000326139.6:c.725T>G
ENSP00000320180.2:p.Phe242Cys

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays