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NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1
First in ClinVar:
Oct 7, 2016
Most recent Submission:
Oct 7, 2016
Last evaluated:
Jan 1, 2006
Accession:
VCV000002016.2
Variation ID:
2016
Description:
1bp insertion
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NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)

Allele ID
17055
Variant type
Insertion
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135431212-135431213 (GRCh38) GRCh38 UCSC
6: 135752350-135752351 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001134831.2:c.2368_2369insT MANE Select NP_001128303.1:p.Asn790fs frameshift
NM_001134830.2:c.2368_2369insT NP_001128302.1:p.Asn790fs frameshift
NM_001134832.2:c.2368_2369insT NP_001128304.1:p.Asn790fs frameshift
... more HGVS
Protein change
N790fs
Other names
-
Canonical SPDI
NC_000006.12:135431212::A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA252050
OMIM: 608894.0007
dbSNP: rs387906270
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 Jan 1, 2006 RCV000002093.6
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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
(Jan 01, 2006)
no assertion criteria provided
Method: literature only
JOUBERT SYNDROME 3
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000022251.4
First in ClinVar: Apr 04, 2013
Last updated: Oct 07, 2016
Publications:
PubMed (1)
PubMed: 16240161
Comment on evidence:
In 2 Pakistani brothers with Joubert syndrome-3 (JBTS3; 608629), born of consanguineous parents, Utsch et al. (2006) identified a homozygous 1-bp insertion (2369insT) in exon … (more)

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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Title Author Journal Year Link
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Utsch B Pediatric nephrology (Berlin, Germany) 2006 PMID: 16240161

Text-mined citations for rs387906270...

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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 Sep 24, 2022