Original source

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

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

Chromosome 5:132385435 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM022066

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11848

This variant has 18 HGVS names - click the plus to show

Variant allele A
5:g.132385435C>A
ENST00000245407.7:c.760C>A
ENST00000437841.6:c.*75C>A
ENST00000435065.6:c.832C>A
ENST00000461013.5:n.8182C>A
ENST00000415928.5:c.529C>A
ENST00000448810.5:c.108C>A

Variant allele T
5:g.132385435C>T
ENST00000245407.7:c.760C>T
ENSP00000245407.3:p.Arg254Ter
ENST00000437841.6:c.*75C>T
ENST00000435065.6:c.832C>T
ENSP00000402760.2:p.Arg278Ter
ENST00000461013.5:n.8182C>T
ENST00000415928.5:c.529C>T
ENSP00000388838.1:p.Arg177Ter
ENST00000448810.5:c.108C>T
ENSP00000401860.1:p.Arg37Ter

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays