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NM_006488.3(KHK):c.118G>A (p.Gly40Arg)

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Interpretation:
Affects​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Sep 1, 1994
Accession:
VCV000012031.1
Variation ID:
12031
Description:
single nucleotide variant
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NM_006488.3(KHK):c.118G>A (p.Gly40Arg)

Allele ID
27070
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.3
Genomic location
2: 27092357 (GRCh38) GRCh38 UCSC
2: 27315225 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.27315225G>A
NC_000002.12:g.27092357G>A
NM_006488.3:c.118G>A MANE Select NP_006479.1:p.Gly40Arg missense
... more HGVS
Protein change
G40R
Other names
KHK, GLY40ARG (rs104893643)
Canonical SPDI
NC_000002.12:27092356:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00025
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00010
Links
ClinGen: CA121823
UniProtKB: P50053#VAR_006072
OMIM: 614058.0001
dbSNP: rs104893643
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Affects 1 no assertion criteria provided Sep 1, 1994 RCV000012811.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KHK - - GRCh38
GRCh37
37 98

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Affects
(Sep 01, 1994)
no assertion criteria provided
Method: literature only
FRUCTOSURIA, ESSENTIAL
Allele origin: germline
OMIM
Accession: SCV000033051.4
Submitted: (Dec 30, 2010)
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
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). Bonthron DT Human molecular genetics 1994 PMID: 7833921

Text-mined citations for rs104893643...

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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 Apr 17, 2020