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NM_006177.4(NRL):c.104dup (p.Thr36Tyrfs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 14, 2016)
Last evaluated:
Sep 1, 2016
Accession:
VCV000560472.1
Variation ID:
560472
Description:
1bp duplication
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NM_006177.4(NRL):c.104dup (p.Thr36Tyrfs)

Allele ID
551571
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 24082745 (GRCh38) GRCh38 UCSC
14: 24551954 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.24551954dup
NC_000014.9:g.24082745dup
NM_001354770.1:c.66+38dup
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 1, 2016 RCV000678586.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NRL - - GRCh38
GRCh38
GRCh37
37 84

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 01, 2016)
no assertion criteria provided
Method: clinical testing
Retinitis pigmentosa 27
Allele origin: unknown
Human Genetics - Radboudumc,Radboudumc
Accession: SCV000804668.2
Submitted: (Sep 14, 2016)
Evidence details

Citations for this variant

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 Jun 17, 2019