Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | 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
Evidence status

Clinical significance

Synonyms

LSDB 11848

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

Variant allele A
5:g.132385435C>A
ENST00000245407.4:c.760C>A
ENST00000437841.3:c.*75C>A
ENST00000435065.3:c.832C>A
ENST00000461013.2:n.8182C>A
ENST00000415928.2:c.529C>A
ENST00000448810.2:c.108C>A

Variant allele T
5:g.132385435C>T
ENST00000245407.4:c.760C>T
ENSP00000245407.3:p.Arg254Ter
ENST00000437841.3:c.*75C>T
ENST00000435065.3:c.832C>T
ENSP00000402760.2:p.Arg278Ter
ENST00000461013.2:n.8182C>T
ENST00000415928.2:c.529C>T
ENSP00000388838.1:p.Arg177Ter
ENST00000448810.2:c.108C>T
ENSP00000401860.1:p.Arg37Ter

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays