NM_003000.2(SDHB):c.111_112dupCC (p.Arg38Profs)

Variation ID: Help
94093
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 6, 2013
Number of submission(s):
1
See supporting ClinVar records

Allele(s) Help

NM_003000.2(SDHB):c.111_112dupCC (p.Arg38Profs)

Allele ID:
99993
Variant type:
Duplication
Cytogenetic location:
1p36.13
Genomic location:
  • Chr1: 17044849 - 17044850 (on Assembly GRCh38)
  • Chr1: 17371344 - 17371345 (on Assembly GRCh37)
HGVS:
  • NG_012340.1:g.14321_14322dupCC
  • NM_003000.2:c.111_112dupCC
  • NC_000001.11:g.17044849_17044850dupGG (GRCh38)
  • NP_002991.2:p.Arg38Profs
  • LRG_316t1:c.111_112dupCC
  • NC_000001.10:g.17371344_17371345dupGG (GRCh37)
  • LRG_316p1:p.Arg38Profs
  • LRG_316:g.14321_14322dupCC
Links:
dbSNP: 398123690
NCBI 1000 Genomes Browser:
rs398123690
Molecular consequence:
NM_003000.2:c.111_112dupCC: frameshift variant [Sequence Ontology SO:0001589]

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

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 6, 2013)
no assertion criteria providedclinical testinggermlineEmory Genetics Laboratory,Emory UniversitySCV000111936.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Emory Genetics Laboratory,Emory Universitynot provided1germlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jul 16, 2016