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NM_003000.2(SDHB):c.302G>A (p.Cys101Tyr)

Variation ID: Help
12786
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
May 9, 2002
Number of submission(s):
1
Condition(s):
Pheochromocytoma[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_003000.2(SDHB):c.302G>A (p.Cys101Tyr)

Allele ID:
27825
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.1
Genomic location:
  • Chr1: 17028721 (on Assembly GRCh38)
  • Chr1: 17355216 (on Assembly GRCh37)
Protein change:
C101Y
HGVS:
  • NG_012340.1:g.30450G>A
  • NM_003000.2:c.302G>A
  • NP_002991.2:p.Cys101Tyr
  • NC_000001.11:g.17028721C>T (GRCh38)
  • LRG_316t1:c.302G>A
  • NC_000001.10:g.17355216C>T (GRCh37)
  • P21912:p.Cys101Tyr
  • LRG_316p1:p.Cys101Tyr
  • LRG_316:g.30450G>A
Links:
NCBI 1000 Genomes Browser:
rs74315371
Molecular consequence:
NM_003000.2:c.302G>A: missense variant [Sequence Ontology SO:0001583]

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
(May 9, 2002)
no assertion criteria providedliterature onlygermlineOMIMSCV000033874.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 26, 2017