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NM_003263.4(TLR1):c.1796C>T (p.Ser599Phe) AND not provided

Germline classification:
Uncertain significance (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:
RCV001357607.1

Allele description [Variation Report for NM_003263.4(TLR1):c.1796C>T (p.Ser599Phe)]

NM_003263.4(TLR1):c.1796C>T (p.Ser599Phe)

Gene:
TLR1:toll like receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p14
Genomic location:
Preferred name:
NM_003263.4(TLR1):c.1796C>T (p.Ser599Phe)
HGVS:
  • NC_000004.12:g.38797036G>A
  • NG_016228.1:g.12756C>T
  • NM_003263.4:c.1796C>TMANE SELECT
  • NP_003254.2:p.Ser599Phe
  • NC_000004.11:g.38798657G>A
Protein change:
S599F
Links:
dbSNP: rs143576765
NCBI 1000 Genomes Browser:
rs143576765
Molecular consequence:
  • NM_003263.4:c.1796C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001553123Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001553123.1

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

Last Updated: Dec 24, 2023