NM_004260.3(RECQL4):c.2464-1G>C AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 4, 2013)

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:
RCV000080889.3

Allele description [Variation Report for NM_004260.3(RECQL4):c.2464-1G>C]

NM_004260.3(RECQL4):c.2464-1G>C

Gene:
RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_004260.3(RECQL4):c.2464-1G>C
HGVS:
  • NC_000008.11:g.144513139C>G
  • NG_016430.1:g.9688G>C
  • NM_004260.3:c.2464-1G>C
  • NC_000008.10:g.145738522C>G
Links:
dbSNP: 398124117
NCBI 1000 Genomes Browser:
rs398124117
Allele Frequency:
NaN
Molecular consequence:
  • NM_004260.3:c.2464-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000112791Emory Genetics Laboratory,Emory Universityno assertion criteria providedPathogenic
(Mar 4, 2013)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided21not providedclinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364.

PubMed [citation]
PMID:
23757202

Details of each submission

From Emory Genetics Laboratory,Emory University, SCV000112791.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing
(GTR000502727)
PubMed (1)
2not provided0not providednot providedclinical testing PubMed (1)
3not provided0not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown21not providednot provided
(GTR000502727)
1not providednot providednot provided
2germlineunknownnot providednot providednot provided0not providednot providednot provided
3germlineunknownnot providednot providednot provided0not providednot providednot provided

Last Updated: Jan 6, 2017