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NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 5, 2020)
Last evaluated:
Jan 1, 2019
Accession:
VCV000975477.1
Variation ID:
975477
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)

Allele ID
963595
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135433027 (GRCh38) GRCh38 UCSC
6: 135754165 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.135754165C>A
NC_000006.12:g.135433027C>A
NG_008643.1:g.69739G>T
... more HGVS
Protein change
G756C
Other names
-
Canonical SPDI
NC_000006.12:135433026:C: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
Likely pathogenic 1 no assertion criteria provided Jan 1, 2019 RCV001252131.1
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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
Likely pathogenic
(Jan 01, 2019)
no assertion criteria provided
Method: clinical testing
Joubert syndrome 3
Allele origin: uniparental
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
Accession: SCV001427881.1
Submitted: (May 05, 2020)
Evidence details
Publications
PubMed (1)

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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Record last updated Oct 08, 2021