NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met) AND not provided

Clinical significance:Uncertain significance

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000087181.2

Allele description [Variation Report for NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met)]

NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met)

Gene:
CUBN:cubilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met)
HGVS:
  • NC_000010.11:g.16990416G>A
  • NG_008967.1:g.144402C>T
  • NM_001081.3:c.4268C>T
  • NM_001081.4:c.4268C>TMANE SELECT
  • NP_001072.2:p.Thr1423Met
  • NP_001072.2:p.Thr1423Met
  • LRG_540t1:c.4268C>T
  • LRG_540:g.144402C>T
  • LRG_540p1:p.Thr1423Met
  • NC_000010.10:g.17032415G>A
Protein change:
T1423M
Links:
dbSNP: rs483352704
NCBI 1000 Genomes Browser:
rs483352704
Molecular consequence:
  • NM_001081.3:c.4268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001081.4:c.4268C>T - 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
SCV000120043Richard Lifton Laboratory, Yale University School of Medicineno assertion criteria providedunknownsomaticnot provided

SCV000155146Richard Lifton Laboratory, Yale University School of Medicineno assertion criteria providedunknownsomaticnot provided

Description

CUBN:p.T1423M

SCV000155146

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided2not providedliterature only

Details of each submission

From Richard Lifton Laboratory, Yale University School of Medicine, SCV000120043.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

From Richard Lifton Laboratory, Yale University School of Medicine, SCV000155146.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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