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GRCh37/hg19 1p32.3(chr1:55464606-55482845) AND Bartter disease type 4A

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001535971.3

Allele description [Variation Report for GRCh37/hg19 1p32.3(chr1:55464606-55482845)]

GRCh37/hg19 1p32.3(chr1:55464606-55482845)

Gene:
BSND:barttin CLCNK type accessory subunit beta [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p32.3
Genomic location:
Chr1: 55464606 - 55482845 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p32.3(chr1:55464606-55482845)
HGVS:
NC_000001.10:g.(?_55464606)_(55482845_?)del

Condition(s)

Name:
Bartter disease type 4A
Synonyms:
Bartter syndrome with sensorineural deafness; BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
Identifiers:
MONDO: MONDO:0011242; MedGen: C1865270; Orphanet: 112; OMIM: 602522

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001752635Fulgent Genetics, Fulgent Genetics
no assertion criteria provided
Pathogenicunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV001752635.1

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

Last Updated: May 7, 2024