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NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 21, 2021)
Last evaluated:
Feb 7, 2020
Accession:
VCV001029631.1
Variation ID:
1029631
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg)

Allele ID
1016651
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135466201 (GRCh38) GRCh38 UCSC
6: 135787339 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.135787339T>C
NC_000006.12:g.135466201T>C
NG_008643.2:g.36565A>G
... more HGVS
Protein change
K121R
Other names
-
Canonical SPDI
NC_000006.12:135466200:T:C
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
Uncertain significance 1 criteria provided, single submitter Feb 7, 2020 RCV001330967.1
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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
Uncertain significance
(Feb 07, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
Allele origin: unknown
Baylor Genetics
Accession: SCV001522844.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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