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NM_000036.2(AMPD1):c.1449C>G (p.Cys483Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 4, 2013)
Accession:
VCV000091870.1
Variation ID:
91870
Description:
single nucleotide variant
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NM_000036.2(AMPD1):c.1449C>G (p.Cys483Trp)

Allele ID
97346
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p13.2
Genomic location
1: 114677389 (GRCh38) GRCh38 UCSC
1: 115220010 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.115220010G>C
NC_000001.11:g.114677389G>C
NG_008012.1:g.23167C>G
... more HGVS
Protein change
C483W, C479W
Other names
-
Canonical SPDI
NC_000001.11:114677388:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA170683
dbSNP: rs587779369
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 - RCV000143844.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AMPD1 - - GRCh38
GRCh37
122 134

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
criteria provided, single submitter
Method: reference population
Autism
Allele origin: paternal
State Key Lab of Medical Genetics, Central South University
Accession: SCV000109575.2
Submitted: (Dec 04, 2013)
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
AMPD1 functional variants associated with autism in Han Chinese population. Zhang L European archives of psychiatry and clinical neuroscience 2015 PMID: 25155876

Text-mined citations for rs587779369...

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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, 2021