Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

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

Co-located variant

HGMD-PUBLIC CM950265

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 12 HGVS names - Hide

Variant allele T
7:g.143330788C>T
ENST00000343257.6:c.870C>T
ENST00000343257.6:c.870C>T(p.=)
ENST00000432192.5:c.*155C>T
ENST00000455478.5:c.*155C>T
ENST00000495612.1:n.171C>T

Variant allele G
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 8 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays