NM_000521.4(HEXB):c.1614-14C>A AND not provided

Clinical significance:Likely benign (Last evaluated: Jul 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001310507.1

Allele description [Variation Report for NM_000521.4(HEXB):c.1614-14C>A]

NM_000521.4(HEXB):c.1614-14C>A

Gene:
HEXB:hexosaminidase subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.3
Genomic location:
Preferred name:
NM_000521.4(HEXB):c.1614-14C>A
HGVS:
  • NC_000005.10:g.74721104C>A
  • NG_009770.2:g.86082C>A
  • NG_011531.1:g.51114G>T
  • NM_000521.4:c.1614-14C>AMANE SELECT
  • NM_001292004.1:c.939-14C>A
  • NC_000005.9:g.74016929C>A
  • NM_000521.3:c.1614-14C>A
Links:
dbSNP: rs201448394
NCBI 1000 Genomes Browser:
rs201448394
Molecular consequence:
  • NM_000521.4:c.1614-14C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001292004.1:c.939-14C>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001500339CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Jul 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001500339.2

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

Last Updated: Jul 10, 2021

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