NG_012449.2:g.83400_83462del

Variation ID: Help
29852
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Aug 1, 2009
Number of submission(s):
1
Condition(s):
Cutis Gyrata syndrome of Beare and Stevenson[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NG_012449.2:g.83400_83462del

Allele ID:
38807
Variant type:
Deletion
Cytogenetic location:
10q26
HGVS:
NG_012449.2:g.83400_83462del
Note:
NCBI staff established the HGVS expression based on the starting point represented in Figure 2 of the paper by Slavotinek et al., 2009 (PubMed 19610084) and the length of 63 bp.
Links:
OMIM: 176943.0040

1 Affected gene

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
(Aug 1, 2009)
no assertion criteria providedliterature only
  • Cutis Gyrata syndrome of Beare and Stevenson[MedGen | OMIM]
germlineOMIMSCV000044020.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jan 19, 2017