GRCh37/hg19 11q21(chr11:94153291-94170401) AND Ataxia-telangiectasia-like disorder 1

Clinical significance:Pathogenic (Last evaluated: Jun 7, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001254035.2

Allele description [Variation Report for GRCh37/hg19 11q21(chr11:94153291-94170401)]

GRCh37/hg19 11q21(chr11:94153291-94170401)

Gene:
MRE11:MRE11 homolog, double strand break repair nuclease [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11q21
Genomic location:
Chr11: 94153291 - 94170401 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11q21(chr11:94153291-94170401)
HGVS:
NC_000011.9:g.(?_94153291)_(94170401_?)del
Observations:
1

Condition(s)

Name:
Ataxia-telangiectasia-like disorder 1 (ATLD1)
Identifiers:
MONDO: MONDO:0024557; MedGen: C4012790; Orphanet: 251347; OMIM: 604391

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001429934Institute of Human Genetics, Klinikum rechts der Isarcriteria provided, single submitter
Pathogenic
(Jun 7, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics, Klinikum rechts der Isar, SCV001429934.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Oct 16, 2021

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