NM_000348.4(SRD5A2):c.281+13C>G AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000083652.1

Allele description [Variation Report for NM_000348.4(SRD5A2):c.281+13C>G]

NM_000348.4(SRD5A2):c.281+13C>G

Gene:

SRD5A2:steroid 5 alpha-reductase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.1

Genomic location:

Preferred name:

NM_000348.4(SRD5A2):c.281+13C>G

HGVS:

NC_000002.12:g.31580607G>C
NG_008365.1:g.5365C>G
NM_000348.4:c.281+13C>GMANE SELECT
NC_000002.11:g.31805677G>C

Links:

dbSNP: rs61750391

NCBI 1000 Genomes Browser:

rs61750391

Molecular consequence:

NM_000348.4:c.281+13C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000115738	University of Sydney Medical Foundation	no classification provided	not provided	not provided	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000115738

University of Sydney Medical Foundation

no classification provided

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From University of Sydney Medical Foundation, SCV000115738.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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Relating variation to medicine