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NM_000787.3(DBH):c.806G>T (p.Cys269Phe)

Variation ID: Help
217763
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 29, 2015
Number of submission(s):
1
Condition(s):
Dopamine beta hydroxylase deficiency[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000787.3(DBH):c.806G>T (p.Cys269Phe)

Allele ID:
214412
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
  • Chr9: 133643474 (on Assembly GRCh38)
  • Chr9: 136508596 (on Assembly GRCh37)
Protein change:
G764T, C255F, C269F
HGVS:
  • NG_008645.1:g.12112G>T
  • NM_000787.3:c.806G>T
  • NP_000778.3:p.Cys269Phe
  • NC_000009.12:g.133643474G>T (GRCh38)
  • NC_000009.11:g.136508596G>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs863225245
Molecular consequence:
NM_000787.3:c.806G>T: 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
(Oct 29, 2015)
no assertion criteria providedliterature onlygermlineGeneReviewsSCV000256553.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
GeneReviewsnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 19, 2019

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