SDHB, IVS4DS, G-C, +1

SDHB, IVS4DS, G-C, +1

Variant type:
single nucleotide variant
Cytogenetic location:
1p36.1-p35
Other names:
  • IVS4DS, G-C, +1
Links:
OMIM: 185470.0013

Clinical significance

SDHB, IVS4DS, G-C, +1

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

1 Affected gene

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Mar 5, 2013)
no assertion criteria providedliterature onlygermlinePubMed (3)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000033878
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedParaganglioma and gastric stromal sarcoma (not provided)not providednot providedPubMedIn male twin sibs with paraganglioma and gastric stromal sarcoma (606864), previously described by Boccon-Gibod et al. (2004), McWhinney et al. (2007)…Full description

Last Updated: Jul 15, 2015