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NM_024715.3(TXNDC15):c.673_687del (p.Ser225_His229del)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 2, 2016)
Accession:
VCV000266074.1
Variation ID:
266074
Description:
15bp deletion
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NM_024715.3(TXNDC15):c.673_687del (p.Ser225_His229del)

Allele ID
260903
Variant type
Deletion
Variant length
15 bp
Cytogenetic location
5q31.1
Genomic location
5: 134893572-134893586 (GRCh38) GRCh38 UCSC
5: 134229262-134229276 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.134893573_134893587del
NC_000005.9:g.134229263_134229277del
NM_001350735.1:c.469_483del NP_001337664.1:p.Ser157_His161del
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10588962
dbSNP: rs886039791
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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 - RCV000256431.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TXNDC15 - - GRCh38
GRCh37
2 20

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
Meckel syndrome
Allele origin: germline
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
Accession: SCV000322765.1
Submitted: (Oct 02, 2016)
Evidence details
Comment:
Loss of function, autozygosity mapping, segregation, gene independently mutated in three families with Meckel-Gruber syndrome, experimental evidence linking TXNDC15 to ciliogenesis

Citations for this variant

Title Author Journal Year Link
Characterizing the morbid genome of ciliopathies. Shaheen R Genome biology 2016 PMID: 27894351

Record last updated Dec 17, 2019