NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 27, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000732183.1

Allele description [Variation Report for NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)]

NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)
HGVS:
  • NC_000011.10:g.17555838CTT[1]
  • NG_033191.2:g.13466CTT[1]
  • NM_001277269.2:c.636CTT[1]
  • NM_001292063.2:c.600CTT[1]MANE SELECT
  • NP_001264198.1:p.Phe214del
  • NP_001278992.1:p.Phe202del
  • NC_000011.9:g.17577385CTT[1]
  • NC_000011.9:g.17577388_17577390delCTT
  • NM_001277269.1:c.639_641delCTT
Protein change:
F202del
Links:
dbSNP: rs753906203
NCBI 1000 Genomes Browser:
rs753906203
Molecular consequence:
  • NM_001277269.2:c.636CTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001292063.2:c.600CTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
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
SCV000860103EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Mar 27, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000860103.1

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

Last Updated: Jul 7, 2021

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