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NM_000368.4(TSC1):c.2208+23G>A

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Aug 9, 2013)
Accession:
VCV000048918.1
Variation ID:
48918
Description:
single nucleotide variant
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NM_000368.4(TSC1):c.2208+23G>A

Allele ID
58080
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.13
Genomic location
9: 132903628 (GRCh38) GRCh38 UCSC
9: 135779015 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.135779015C>T
NC_000009.12:g.132903628C>T
NM_001362177.2:c.1845+23G>A
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA006134
Tuberous sclerosis database (TSC1): TSC1_00435
dbSNP: rs118203658
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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 - RCV000042169.2
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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: SCV000065955.3
Submitted: (Aug 09, 2013)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019