Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 19:1401418 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041007

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

19:g.1401418C>G
ENST00000447102.7:c.59G>C
ENSP00000403536.2:p.Trp20Ser
ENST00000252288.6:c.59G>C
ENSP00000252288.1:p.Trp20Ser

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays