Original source

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

Alleles
A/G/T|Ancestral: A|Ambiguity code: D
Location

Chromosome 7:143342001 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950274

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

Variant allele T
7:g.143342001A>T
ENST00000343257.6:c.1655A>T
ENSP00000339867.2:p.Gln552Leu

Variant allele G
7:g.143342001A>G
ENST00000343257.6:c.1655A>G
ENSP00000339867.2:p.Gln552Arg

About this variant

This variant overlaps 2 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays