NM_003000.3(SDHB):c.80G>A (p.Arg27Gln) AND Hereditary Paraganglioma-Pheochromocytoma Syndromes

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000505281.1

Allele description [Variation Report for NM_003000.3(SDHB):c.80G>A (p.Arg27Gln)]

NM_003000.3(SDHB):c.80G>A (p.Arg27Gln)

Gene:
SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.3(SDHB):c.80G>A (p.Arg27Gln)
HGVS:
  • NC_000001.11:g.17044881C>T
  • NG_012340.1:g.14290G>A
  • NM_003000.2:c.80G>A
  • NM_003000.3:c.80G>AMANE SELECT
  • NP_002991.2:p.Arg27Gln
  • NP_002991.2:p.Arg27Gln
  • LRG_316t1:c.80G>A
  • LRG_316:g.14290G>A
  • LRG_316p1:p.Arg27Gln
  • NC_000001.10:g.17371376C>T
Protein change:
R27Q
Links:
dbSNP: rs373976827
NCBI 1000 Genomes Browser:
rs373976827
Molecular consequence:
  • NM_003000.2:c.80G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003000.3:c.80G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary Paraganglioma-Pheochromocytoma Syndromes (PGL-PCC)
Synonyms:
Hereditary Paragangliomas and Pheochromocytomas
Identifiers:
MONDO: MONDO:0017366; MedGen: C1708353

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000599489Section on Medical Neuroendocrinolgy,National Institutes of Healthno assertion criteria providedPathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Section on Medical Neuroendocrinolgy,National Institutes of Health, SCV000599489.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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