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NM_032119.3(ADGRV1):c.18732_18750del (p.Tyr6244Terfs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Feb 1, 2004
Accession:
VCV000006801.1
Variation ID:
6801
Description:
19bp deletion
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NM_032119.3(ADGRV1):c.18732_18750del (p.Tyr6244Terfs)

Allele ID
21840
Variant type
Deletion
Variant length
19 bp
Cytogenetic location
5q14.3
Genomic location
5: 91153328-91153346 (GRCh38) GRCh38 UCSC
5: 90449145-90449163 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.90449145_90449163del
NC_000005.10:g.91153328_91153346del
NM_032119.3:c.18732_18750del
NP_115495.3:p.Tyr6244Terfs
Protein change
-
Other names
ADGRV1, 19-BP DEL, NT18732
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 602851.0005
dbSNP: rs796051865
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 14740321 Fig. 1D to determine the location of this allele on the current reference sequence.
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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 Feb 1, 2004 RCV000007203.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ADGRV1 - - GRCh38
GRCh37
754 777

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 01, 2004)
no assertion criteria provided
Method: literature only
USHER SYNDROME, TYPE IIC
Allele origin: germline
OMIM
Accession: SCV000027399.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Weston MD American journal of human genetics 2004 PMID: 14740321

Record last updated Jun 17, 2019