GRCh38/hg38 19p13.3(chr19:1156372-1228333)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000053939.4

Allele description [Variation Report for GRCh38/hg38 19p13.3(chr19:1156372-1228333)x1]

GRCh38/hg38 19p13.3(chr19:1156372-1228333)x1

Genes:
CBARP:CACN beta subunit associated regulatory protein [Gene - HGNC]
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
SBNO2:strawberry notch homolog 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
GRCh38/hg38 19p13.3(chr19:1156372-1228333)x1
HGVS:
  • NC_000019.10:g.(?_1156372)_(1228333_?)del
  • NC_000019.8:g.(?_1107371)_(1179332_?)del
  • NC_000019.9:g.(?_1156371)_(1228332_?)del
Links:
dbVar: nssv577668; dbVar: nsv532607
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000081302GeneDxcriteria provided, single submitter
Pathogenic
(Aug 12, 2011)
not providedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000081302.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Nov 4, 2017