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NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Nov 15, 2015)
Last evaluated:
Jan 1, 2014
Accession:
VCV000091397.2
Variation ID:
91397
Description:
single nucleotide variant
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NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu)

Allele ID
96873
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2496206 (GRCh38) GRCh38 UCSC
16: 2546207 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2496206C>G
NC_000016.9:g.2546207C>G
NM_001199107.2:c.58C>G NP_001186036.1:p.Gln20Glu missense
... more HGVS
Protein change
Q20E
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: Q9ULP9#VAR_070912
OMIM: 613577.0009
dbSNP: rs201257588
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Jan 1, 2014 RCV000076915.6

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TBC1D24 - - GRCh38
GRCh37
399 438

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2014)
criteria provided, single submitter
Method: research
DOORS syndrome
(Autosomal recessive inheritance)
Allele origin: germline
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine
Accession: SCV000266464.1
Submitted: (Nov 15, 2015)
Evidence details
Publications
PubMed (3)
Comment:
We identified 26 families with DOORS syndrome; each patient had at least 3 of the 5 well-described features of DOORS syndrome, which include deafness, onychodystrophy, ... (more)
Pathogenic
(Jan 01, 2014)
no assertion criteria provided
Method: literature only
DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME
Allele origin: germline
OMIM
Accession: SCV000108712.4
Submitted: (Apr 29, 2015)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
<i>TBC1D24</i>-Related Disorders Mucha BE - 2017 PMID: 25719194
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Campeau PM American journal of medical genetics. Part C, Seminars in medical genetics 2014 PMID: 25169651
The genetic basis of DOORS syndrome: an exome-sequencing study. Campeau PM The Lancet. Neurology 2014 PMID: 24291220
PLS3 mutations in X-linked osteoporosis with fractures. van Dijk FS The New England journal of medicine 2013 PMID: 24088043
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Lupski JR Genome medicine 2013 PMID: 23806086

Record last updated Aug 25, 2019