FMR1, (CGG)n EXPANSION

Variation ID: Help
9972
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 10, 2001
Number of submission(s):
3
Condition(s):
See supporting ClinVar records

Allele(s) Help

FMR1, (CGG)n EXPANSION

Allele ID:
25011
Variant type:
Microsatellite
Cytogenetic location:
Xq27.3
Other names:
  • FMR1, (CGG)n EXPANSION
Links:
OMIM: 309550.0004

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
Pathogenic
(Jul 10, 2001)
no assertion criteria providedliterature onlygermlineOMIMSCV000030877.3
Pathogenic
(Jul 10, 2001)
no assertion criteria providedliterature onlygermlineOMIMSCV000030878.2
Pathogenic
(Jul 10, 2001)
no assertion criteria providedliterature onlygermlineOMIMSCV000030879.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 12, 2017