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ATXN2, (CAG)n EXPANSION, INTERMEDIATE

Variation ID: Help
8114
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
Oct 1, 2011
Number of submission(s):
1
Condition(s):
Amyotrophic lateral sclerosis 13[MedGen]
See supporting ClinVar records

Allele(s) Help

ATXN2, (CAG)n EXPANSION, INTERMEDIATE

Allele ID:
23153
Variant type:
Microsatellite
Cytogenetic location:
12q24
Other names:
  • ATXN2, (CAG)n EXPANSION, INTERMEDIATE
Links:
OMIM: 601517.0002

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
risk factor
(Oct 1, 2011)
no assertion criteria providedliterature only
  • Amyotrophic lateral sclerosis 13[MedGen]
germlineOMIMSCV000028791.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 13, 2017