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NM_014681.6(DHX34):c.466C>T (p.Gln156Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 30, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000853112.3

Allele description [Variation Report for NM_014681.6(DHX34):c.466C>T (p.Gln156Ter)]

NM_014681.6(DHX34):c.466C>T (p.Gln156Ter)

Gene:
DHX34:DExH-box helicase 34 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_014681.6(DHX34):c.466C>T (p.Gln156Ter)
HGVS:
  • NC_000019.10:g.47353496C>T
  • NM_014681.6:c.466C>TMANE SELECT
  • NP_055496.2:p.Gln156Ter
  • NC_000019.9:g.47856753C>T
  • NM_014681.5:c.466C>T
Protein change:
Q156*
Links:
dbSNP: rs1599751192
NCBI 1000 Genomes Browser:
rs1599751192
Molecular consequence:
  • NM_014681.6:c.466C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Polycystic kidney disease
Synonyms:
Polycystic kidney dysplasia; Kidney, Polycystic
Identifiers:
MONDO: MONDO:0020642; MeSH: D007690; MedGen: C0022680; OMIM: PS173900; Human Phenotype Ontology: HP:0000113
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Name:
Emphysema
Synonyms:
Pulmonary emphysema
Identifiers:
MONDO: MONDO:0004849; MedGen: C0034067; Human Phenotype Ontology: HP:0002097
Name:
Reduced renal corticomedullary differentiation
Identifiers:
MedGen: C3807131; Human Phenotype Ontology: HP:0005565
Name:
Neurodevelopmental delay
Identifiers:
MedGen: C4022738; Human Phenotype Ontology: HP:0012758
Name:
Postaxial polydactyly
Identifiers:
MONDO: MONDO:0020927; MedGen: C0220697; OMIM: PS174200; Human Phenotype Ontology: HP:0100259

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000995967Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Likely pathogenic
(May 30, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000995967.1

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

Last Updated: Sep 16, 2024