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 7:107919212 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960489

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6382

HGVS names

This variant has 10 HGVS names - Hide

7:g.107919212A>G
ENST00000205402.9:c.1483A>G
ENSP00000205402.3:p.Arg495Gly
ENST00000417551.5:c.1483A>G
ENSP00000390667.1:p.Arg495Gly
ENST00000437604.6:c.1339A>G
ENSP00000387542.2:p.Arg447Gly
ENST00000415325.5:c.*1157A>G
ENST00000440410.5:c.1414A>G
ENSP00000417016.1:p.Arg472Gly

About this variant

This variant overlaps 9 transcripts and is associated with 2 phenotypes.

Variant displays