NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 6, 2017)

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:
RCV000675963.1

Allele description [Variation Report for NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr)]

NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr)

Gene:
CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr)
HGVS:
  • NC_000015.10:g.68211850G>T
  • NG_008764.2:g.50362C>A
  • NM_017882.3:c.311C>AMANE SELECT
  • NP_060352.1:p.Ser104Tyr
  • LRG_832t1:c.311C>A
  • LRG_832:g.50362C>A
  • LRG_832p1:p.Ser104Tyr
  • NC_000015.9:g.68504188G>T
  • NM_017882.2:c.311C>A
Protein change:
S104Y
Links:
dbSNP: rs777921628
NCBI 1000 Genomes Browser:
rs777921628
Molecular consequence:
  • NM_017882.3:c.311C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000801692Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedUncertain significance
(Sep 6, 2017)
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, SCV000801692.1

#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: Oct 8, 2021

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