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NM_004366.5(CLCN2):c.64-1107_639del (p.Met22LeufsTer5)

Variation ID: Help
217783
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 9, 2015
Number of submission(s):
1
Condition(s):
Leukoencephalopathy with ataxia[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_004366.5(CLCN2):c.64-1107_639del (p.Met22LeufsTer5)

Allele ID:
214440
Variant type:
Deletion
Cytogenetic location:
3q27.1
Genomic location:
  • Chr3: 184357833 - 184360238 (on Assembly GRCh38)
  • Chr3: 184075622 - 184078027 (on Assembly GRCh37)
HGVS:
  • NM_004366.5:c.64-1107_639del
  • NP_004357.3:p.Met22LeufsTer5
  • NC_000003.12:g.184357833_184360238del2406 (GRCh38)
  • NC_000003.11:g.184075622_184078027del2406 (GRCh37)
Links:
ClinGen: CA347650

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Sep 9, 2015)
no assertion criteria providedliterature onlygermlineGeneReviewsSCV000256578.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
GeneReviewsnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 19, 2019

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