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NM_000368.4(TSC1):c.1303C>T (p.Gln435Ter)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Aug 9, 2013)
Accession:
VCV000048758.1
Variation ID:
48758
Description:
single nucleotide variant
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NM_000368.4(TSC1):c.1303C>T (p.Gln435Ter)

Allele ID
57920
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 132907331 (GRCh38) GRCh38 UCSC
9: 135782718 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.135782718G>A
NC_000009.12:g.132907331G>A
NM_000368.4:c.1303C>T NP_000359.1:p.Gln435Ter nonsense
... more HGVS
Protein change
Q435*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs118203511
ClinGen: CA004617
Tuberous sclerosis database (TSC1): TSC1_00082
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000042005.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TSC1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1869 1907

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
not provided
(-)
no assertion provided
Method: curation
TSC
Allele origin: germline
Tuberous sclerosis database (TSC1)
Accession: SCV000065787.3
Submitted: (Aug 09, 2013)
Evidence details

Citations for this variant

Title Author Journal Year Link
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Au KS Genetics in medicine : official journal of the American College of Medical Genetics 2007 PMID: 17304050
tsc-project.partners.org/index.htm - - - -

Record last updated Oct 27, 2019