NM_003002.3(SDHD):c.443delG (p.Gly148Alafs)

Variation ID: Help
6902
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
May 15, 2001
Number of submission(s):
1
Condition(s):
Paragangliomas 1[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_003002.3(SDHD):c.443delG (p.Gly148Alafs)

Allele ID:
21941
Variant type:
Deletion
Cytogenetic location:
11q23.1
Genomic location:
  • Chr11: 112094933 (on Assembly GRCh38)
  • Chr11: 111965657 (on Assembly GRCh37)
HGVS:
  • NG_012337.3:g.13087delG
  • NM_001276503.1:c.*40delG
  • NM_003002.3:c.443delG
  • NP_002993.1:p.Gly148Alafs
  • NC_000011.10:g.112094933delG (GRCh38)
  • NR_077060.1:n.581delG
  • NC_000011.9:g.111965657delG (GRCh37)
  • NG_012337.2:g.13087delG
Links:
NCBI 1000 Genomes Browser:
rs587776646
Molecular consequence:
  • NM_001276503.1:c.*40delG: 3 prime UTR variant SO:0001624
  • NM_003002.3:c.443delG: frameshift variant SO:0001589
  • NR_077060.1:n.581delG: non-coding transcript variant SO:0001619

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 15, 2001)
no assertion criteria providedliterature onlygermlineOMIMSCV000027508.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 6, 2016