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NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1
First in ClinVar:
Oct 11, 2014
Most recent Submission:
Oct 11, 2014
Last evaluated:
Sep 18, 2014
Accession:
VCV000156383.1
Variation ID:
156383
Description:
7bp deletion
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NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs)

Allele ID
166164
Variant type
Deletion
Variant length
7 bp
Cytogenetic location
6q23.3
Genomic location
6: 135428648-135428654 (GRCh38) GRCh38 UCSC
6: 135749786-135749792 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001134831.2:c.2598_2604del MANE Select NP_001128303.1:p.Ile866fs frameshift
NM_001134830.2:c.2598_2604del NP_001128302.1:p.Ile866fs frameshift
NM_001134832.2:c.2598_2604del NP_001128304.1:p.Ile866fs frameshift
... more HGVS
Protein change
I866fs
Other names
-
Canonical SPDI
NC_000006.12:135428647:ATACACTATAC:ATAC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA270783
dbSNP: rs587783014
VarSome
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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 18, 2014 RCV000144465.1
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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
893 910

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Sep 18, 2014)
no assertion criteria provided
Method: clinical testing
Joubert syndrome 3
Affected status: yes
Allele origin: unknown
Molecular Diagnostics Laboratory,Seoul National University Hospital
Accession: SCV000189599.1
First in ClinVar: Oct 11, 2014
Last updated: Oct 11, 2014

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 rs587783014...

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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 Apr 25, 2022