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NM_000197.2(HSD17B3):c.578C>A (p.Pro193His) AND Pseudohermaphroditism

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 29, 2017
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:
RCV000583085.1

Allele description [Variation Report for NM_000197.2(HSD17B3):c.578C>A (p.Pro193His)]

NM_000197.2(HSD17B3):c.578C>A (p.Pro193His)

Genes:
SLC35D2-HSD17B3:SLC35D2-HSD17B3 readthrough [Gene]
HSD17B3:hydroxysteroid 17-beta dehydrogenase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000197.2(HSD17B3):c.578C>A (p.Pro193His)
HGVS:
  • NC_000009.12:g.96245373G>T
  • NG_008157.1:g.61780C>A
  • NM_000197.2:c.578C>AMANE SELECT
  • NP_000188.1:p.Pro193His
  • LRG_1296t1:c.578C>A
  • LRG_1296:g.61780C>A
  • LRG_1296p1:p.Pro193His
  • NC_000009.11:g.99007655G>T
  • NM_000197.1:c.578C>A
Protein change:
P193H
Links:
dbSNP: rs773720185
NCBI 1000 Genomes Browser:
rs773720185
Molecular consequence:
  • NM_000197.2:c.578C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pseudohermaphroditism
Identifiers:
MONDO: MONDO:0005518; MedGen: C0033804

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000692122Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Likely pathogenic
(Mar 29, 2017)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692122.1

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

Last Updated: Mar 26, 2023