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NM_004817.4(TJP2):c.1001del (p.Arg334fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 14, 2015)
Accession:
VCV000191345.1
Variation ID:
191345
Description:
1bp deletion
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NM_004817.4(TJP2):c.1001del (p.Arg334fs)

Allele ID
189148
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
9q21.11
Genomic location
9: 69225352 (GRCh38) GRCh38 UCSC
9: 71840268 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.71840268del
NC_000009.12:g.69225352del
NM_004817.4:c.1001del MANE Select NP_004808.2:p.Arg334fs frameshift
... more HGVS
Protein change
R311fs, R334fs, R338fs, R365fs
Other names
-
Canonical SPDI
NC_000009.12:69225351:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA236466
dbSNP: rs786205659
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV000171538.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TJP2 - - GRCh38
GRCh37
397 452

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Not provided
Allele origin: germline
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
Accession: SCV000221737.1
Submitted: (Apr 14, 2015)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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

Text-mined citations for rs786205659...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 01, 2019