NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) AND not provided

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000190281.1

Allele description [Variation Report for NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)]

NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)

Gene:
MTOR:mechanistic target of rapamycin kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)
Other names:
NM_004958.3(MTOR):c.6644C>T; p.Ser2215Phe
HGVS:
  • NC_000001.11:g.11124516G>A
  • NG_033239.1:g.143036C>T
  • NM_004958.4:c.6644C>TMANE SELECT
  • NP_004949.1:p.Ser2215Phe
  • LRG_734t1:c.6644C>T
  • LRG_734:g.143036C>T
  • NC_000001.10:g.11184573G>A
  • NM_004958.3:c.6644C>T
Protein change:
S2215F; SER2215PHE
Links:
OMIM: 601231.0008; dbSNP: rs587777894
NCBI 1000 Genomes Browser:
rs587777894
Molecular consequence:
  • NM_004958.4:c.6644C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000191089James Howe Lab,University of Iowa Hospital and Clinicsno assertion providednot providednot providednot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From James Howe Lab,University of Iowa Hospital and Clinics, SCV000191089.1

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

Last Updated: Nov 27, 2021

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