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NM_000787.3(DBH):c.735C>T (p.His245=)

Variation ID: Help
365643
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely benign
Last evaluated:
Jun 14, 2016
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.735C>T (p.His245=)

Allele ID:
307402
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
  • Chr9: 133642455 (on Assembly GRCh38)
  • Chr9: 136507577 (on Assembly GRCh37)
HGVS:
  • NG_008645.1:g.11093C>T
  • NM_000787.3:c.735C>T
  • NP_000778.3:p.His245=
  • NC_000009.12:g.133642455C>T (GRCh38)
  • NC_000009.11:g.136507577C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs5322
Molecular consequence:
NM_000787.3:c.735C>T: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • 1000 Genomes Project 0.02037 (T)
  • 1000 Genomes Project 0.02037
  • Exome Aggregation Consortium (ExAC) 0.02656
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02414
  • The Genome Aggregation Database (gnomAD) 0.02256
  • The Genome Aggregation Database (gnomAD), exomes 0.01828
  • Trans-Omics for Precision Medicine (TOPMed) 0.02035

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
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000478433.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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