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NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)

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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:
VCV000813242.1
Variation ID:
813242
Description:
15bp deletion
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NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del)

Allele ID
801281
Variant type
Deletion
Variant length
15 bp
Cytogenetic location
1q41
Genomic location
1: 215844422-215844436 (GRCh37) GRCh37 UCSC
1: 215671080-215671094 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215844422_215844436del
NC_000001.11:g.215671080_215671094del
NG_009497.1:g.757303_757317del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:215671079:TCTTCTGTATAATTC:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1657799383
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 RCV001199786.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH2A - - GRCh38
GRCh37
3407 4062

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 2
Allele origin: germline
Molecular Genetics Laboratory,Institute for Ophthalmic Research
Accession: SCV001162726.1
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.

Text-mined citations for rs1657799383...

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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 27, 2021