U.S. flag

An official website of the United States government

GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 2017
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:
RCV000849939.2

Allele description [Variation Report for GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x1]

GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x1

Genes:
FIBIN:fin bud initiation factor homolog [Gene - OMIM - HGNC]
BBOX1:gamma-butyrobetaine hydroxylase 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11p14.2-14.1
Genomic location:
Chr11: 26975017 - 27238107 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x1
HGVS:
NC_000011.9:g.(?_26975017)_(27238107_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992081Bionano Laboratories
no assertion criteria provided
Uncertain significance
(Oct 26, 2017) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Bionano Laboratories, SCV000992081.1

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

Last Updated: Dec 11, 2022