Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Nov 9, 2015
Most recent Submission:
Nov 9, 2015
Last evaluated:
Feb 23, 2015
Accession:
VCV000217549.1
Variation ID:
217549
Description:
single nucleotide variant
Help

NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)

Allele ID
214230
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135427226 (GRCh38) GRCh38 UCSC
6: 135748364 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001134831.2:c.2705T>A MANE Select NP_001128303.1:p.Val902Asp missense
NM_001134830.2:c.2705T>A NP_001128302.1:p.Val902Asp missense
NM_001134832.2:c.2705T>A NP_001128304.1:p.Val902Asp missense
... more HGVS
Protein change
V902D
Other names
-
Canonical SPDI
NC_000006.12:135427225:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00001
Links
ClinGen: CA277806
dbSNP: rs368788993
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Feb 23, 2015 RCV000201756.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
Method: research
Joubert syndrome 3
Affected status: yes
Allele origin: unknown
UW Hindbrain Malformation Research Program,University of Washington
Additional submitter:
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV000256276.1
First in ClinVar: Nov 09, 2015
Last updated: Nov 09, 2015
Publications:
PubMed (1)
PubMed: 26092869

Functional evidence

Help
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

Help
Title Author Journal Year Link
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Bachmann-Gagescu R Journal of medical genetics 2015 PMID: 26092869

Text-mined citations for rs368788993...

Help
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