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NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 8, 2020)
Last evaluated:
Mar 1, 2020
Accession:
VCV000984718.1
Variation ID:
984718
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)

Allele ID
972788
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135442666 (GRCh38) GRCh38 UCSC
6: 135763804 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.135763804G>A
NC_000006.12:g.135442666G>A
NG_008643.1:g.60100C>T
... more HGVS
Protein change
R610*
Other names
-
Canonical SPDI
NC_000006.12:135442665:G:A
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 Mar 1, 2020 RCV001264829.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AHI1 - - GRCh38
GRCh37
619 634

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 01, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
(Autosomal recessive inheritance)
Allele origin: biparental
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001443027.1
Submitted: (Oct 08, 2020)
Evidence details
Comment:
Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1,PM2,PM3

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 08, 2021