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 14:50916718 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981685

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_002863.3:c.1016A>G

HGVS names

This variant has 7 HGVS names - Hide

14:g.50916718T>C
ENST00000216392.7:c.1016A>G
ENSP00000216392.7:p.Asn339Ser
ENST00000532462.5:c.1016A>G
ENSP00000431657.1:p.Asn339Ser
ENST00000544180.6:c.914A>G
ENSP00000443787.1:p.Asn305Ser

About this variant

This variant overlaps 7 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays