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NM_024006.6(VKORC1):c.203A>G (p.His68Arg)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Apr 27, 2017
Accession:
VCV000887600.1
Variation ID:
887600
Description:
single nucleotide variant
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NM_024006.6(VKORC1):c.203A>G (p.His68Arg)

Allele ID
875114
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p11.2
Genomic location
16: 31093392 (GRCh38) GRCh38 UCSC
16: 31104713 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.31093392T>C
NC_000016.9:g.31104713T>C
NM_024006.6:c.203A>G MANE Select NP_076869.1:p.His68Arg missense
... more HGVS
Protein change
H68R
Other names
-
Canonical SPDI
NC_000016.10:31093391: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
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV001120429.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VKORC1 - - GRCh38
GRCh37
41 66

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Vitamin K-dependent clotting factors, combined deficiency of, 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001278913.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (2)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)

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
Polymorphisms in vitamin K-dependent gamma-carboxylation-related genes influence interindividual variability in plasma protein C and protein S activities in the general population. Kimura R International journal of hematology 2006 PMID: 17189218
VKORC1 gene variations are the major contributors of variation in warfarin dose in Japanese patients. Obayashi K Clinical pharmacology and therapeutics 2006 PMID: 16890578

Record last updated Feb 05, 2021