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 7:143330788 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950265

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

7:g.143330788C>G
ENST00000343257.6:c.870C>G
ENSP00000339867.2:p.Ile290Met
ENST00000432192.5:c.*155C>G
ENST00000455478.5:c.*155C>G
ENST00000495612.1:n.171C>G

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays