NM_005901.6(SMAD2):c.997+1G>A AND not provided

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000122602.1

Allele description [Variation Report for NM_005901.6(SMAD2):c.997+1G>A]

NM_005901.6(SMAD2):c.997+1G>A

Gene:
SMAD2:SMAD family member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.1
Genomic location:
Preferred name:
NM_005901.6(SMAD2):c.997+1G>A
HGVS:
  • NC_000018.10:g.47848474C>T
  • NG_029946.1:g.87671G>A
  • NM_001003652.4:c.997+1G>A
  • NM_001135937.2:c.907+1G>A
  • NM_005901.6:c.997+1G>A
  • NC_000018.9:g.45374845C>T
Links:
dbSNP: rs367537999
NCBI 1000 Genomes Browser:
rs367537999
Molecular consequence:
  • NM_001003652.4:c.997+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001135937.2:c.907+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_005901.6:c.997+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000155110Richard Lifton Laboratory, Yale University School of Medicineno assertion provideduntestedgermlinenot provided

Description

SMAD2

SCV000155110

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Richard Lifton Laboratory, Yale University School of Medicine, SCV000155110.1

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

Description

Converted during submission to not provided.

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

Last Updated: Nov 2, 2019

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