NM_004937.3(CTNS):c.462-7C>A AND not provided

Clinical significance:Likely benign (Last evaluated: Jan 24, 2018)

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:
RCV000675694.4

Allele description [Variation Report for NM_004937.3(CTNS):c.462-7C>A]

NM_004937.3(CTNS):c.462-7C>A

Gene:
CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_004937.3(CTNS):c.462-7C>A
HGVS:
  • NC_000017.11:g.3656480C>A
  • NG_012489.2:g.25013C>A
  • NM_001031681.3:c.462-7C>A
  • NM_001374492.1:c.462-7C>A
  • NM_001374493.1:c.21-7C>A
  • NM_001374494.1:c.21-7C>A
  • NM_001374495.1:c.21-7C>A
  • NM_001374496.1:c.21-7C>A
  • NM_004937.3:c.462-7C>AMANE SELECT
  • NC_000017.10:g.3559774C>A
  • NM_001031681.2:c.462-7C>A
  • NM_004937.2:c.462-7C>A
Links:
dbSNP: rs189632527
NCBI 1000 Genomes Browser:
rs189632527
Molecular consequence:
  • NM_001031681.3:c.462-7C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374492.1:c.462-7C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374493.1:c.21-7C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374494.1:c.21-7C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374495.1:c.21-7C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374496.1:c.21-7C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004937.3:c.462-7C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000801404Mayo Clinic Laboratories,Mayo Clinicno assertion criteria providedLikely benign
(Jan 24, 2018)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories,Mayo Clinic, SCV000801404.1

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

Last Updated: Dec 2, 2021

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