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NM_032656.4(DHX37):c.1399C>G (p.Leu467Val) 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:
RCV000853096.3

Allele description [Variation Report for NM_032656.4(DHX37):c.1399C>G (p.Leu467Val)]

NM_032656.4(DHX37):c.1399C>G (p.Leu467Val)

Gene:
DHX37:DEAH-box helicase 37 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_032656.4(DHX37):c.1399C>G (p.Leu467Val)
HGVS:
  • NC_000012.12:g.124968543G>C
  • NM_032656.4:c.1399C>GMANE SELECT
  • NP_116045.2:p.Leu467Val
  • NC_000012.11:g.125453089G>C
  • NC_000012.11:g.125453089G>C
  • NM_032656.3:c.1399C>G
  • NM_032656.3:c.[1399C>G]
Protein change:
L467V
Links:
dbSNP: rs149331610
NCBI 1000 Genomes Browser:
rs149331610
Molecular consequence:
  • NM_032656.4:c.1399C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
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:
Neurodevelopmental delay
Identifiers:
MedGen: C4022738; Human Phenotype Ontology: HP:0012758

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000995951Lupski 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, SCV000995951.1

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

Last Updated: Oct 20, 2024