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NM_022124.6(CDH23):c.4105-2A>T

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 9, 2020)
Last evaluated:
Jan 9, 2020
Accession:
VCV000813029.1
Variation ID:
813029
Description:
single nucleotide variant
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NM_022124.6(CDH23):c.4105-2A>T

Allele ID
801422
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71734238 (GRCh38) GRCh38 UCSC
10: 73493995 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.73493995A>T
NC_000010.10:g.73493995A>T
NC_000010.11:g.71734238A>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:71734237:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jan 9, 2020 RCV001199451.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
C10orf105 - - - GRCh38
GRCh37
- 277
CDH23 - - GRCh38
GRCh37
2136 2571

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 09, 2020)
criteria provided, single submitter
Method: research
Usher syndrome type 1
Allele origin: germline
Molecular Genetics Laboratory,Institute for Ophthalmic Research
Accession: SCV001162434.1
Submitted: (Jan 09, 2020)
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.

Record last updated Oct 24, 2021