Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 18:23535479 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM971075, CM053347

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 10 HGVS names - click the plus to show

18:g.23535479T>C
ENST00000269228.9:c.3467A>G
ENSP00000269228.4:p.Asn1156Ser
ENST00000591051.1:c.2545A>G
ENSP00000467636.1:p.Asn849Ser
ENST00000586150.5:c.222A>G
ENSP00000468321.1:p.Asn75Ser
ENST00000591107.6:c.144A>G
ENSP00000468438.1:p.Asn49Ser
ENST00000588867.1:n.222A>G

About this variant

This variant overlaps 21 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays