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NM_000787.3(DBH):c.342C>A (p.Asp114Glu)

Variation ID: Help
1751
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):
2
Condition(s):
Dopamine beta hydroxylase deficiency[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000787.3(DBH):c.342C>A (p.Asp114Glu)

Allele ID:
16790
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
  • Chr9: 133639848 (on Assembly GRCh38)
  • Chr9: 136504970 (on Assembly GRCh37)
Other names:
  • DBH, ASP100GLU
Protein change:
D114E, C300A
HGVS:
  • NG_008645.1:g.8486C>A
  • NM_000787.3:c.342C>A
  • NP_000778.3:p.Asp114Glu
  • NC_000009.12:g.133639848C>A (GRCh38)
  • NC_000009.11:g.136504970C>A (GRCh37)
  • P09172:p.Asp114Glu
Note:
NCBI staff reviewed the sequence information reported in PubMed 11857564 to determine the location of this allele on current reference sequence (D114E).
Links:
NCBI 1000 Genomes Browser:
rs77576840
Molecular consequence:
NM_000787.3:c.342C>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00020 (T)
  • The Genome Aggregation Database (gnomAD), exomes 0.00000
  • Trans-Omics for Precision Medicine (TOPMed) 0.00001

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
(Mar 1, 2002)
no assertion criteria providedliterature onlygermlineOMIMSCV000021977.3
Pathogenic
(Oct 29, 2015)
no assertion criteria providedliterature onlygermlineGeneReviewsSCV000256550.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermlinenot providednot provided
GeneReviewsnot providednot providedgermlinenot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 19, 2019

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