Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H|MAF: < 0.01 (T)
Location

Chromosome 7:143351678 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM940286

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

Variant allele A
7:g.143351678C>A
ENST00000343257.6:c.2680C>A
ENST00000343257.6:c.2680C>A(p.=)

Variant allele T
7:g.143351678C>T
ENST00000343257.6:c.2680C>T
ENSP00000339867.2:p.Arg894Ter

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays