NM_000414.4(HSD17B4):c.1210-11C>G AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Apr 1, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001250119.1

Allele description [Variation Report for NM_000414.4(HSD17B4):c.1210-11C>G]

NM_000414.4(HSD17B4):c.1210-11C>G

Gene:
HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.1
Genomic location:
Preferred name:
NM_000414.4(HSD17B4):c.1210-11C>G
HGVS:
  • NC_000005.10:g.119502030C>G
  • NG_008182.1:g.54578C>G
  • NM_000414.4:c.1210-11C>GMANE SELECT
  • NM_001199291.3:c.1285-11C>G
  • NM_001199292.2:c.1156-11C>G
  • NM_001292027.2:c.1138-11C>G
  • NM_001292028.2:c.790-11C>G
  • NC_000005.9:g.118837725C>G
  • NM_001199291.1:c.1285-11C>G
Links:
dbSNP: rs779466683
NCBI 1000 Genomes Browser:
rs779466683
Molecular consequence:
  • NM_000414.4:c.1210-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199291.3:c.1285-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199292.2:c.1156-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001292027.2:c.1138-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001292028.2:c.790-11C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Bifunctional peroxisomal enzyme deficiency (DBIF)
Synonyms:
D-bifunctional protein deficiency; DBP deficiency; D-bifunctional enzyme deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009855; MedGen: C0342870; OMIM: 261515
Name:
Perrault syndrome 1 (PRLTS1)
Synonyms:
GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS; OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS
Identifiers:
MONDO: MONDO:0009300; MedGen: C4551721; Orphanet: 2855; OMIM: 233400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001424305Elsea Laboratory,Baylor College of Medicineno assertion criteria providedLikely pathogenic
(Apr 1, 2020)
paternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Elsea Laboratory,Baylor College of Medicine, SCV001424305.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2021

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