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_000431.4(MVK):c.447C>G (p.Tyr149Ter)

Help
Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Jun 7, 2010)
Accession:
VCV000097593.1
Variation ID:
97593
Description:
single nucleotide variant
Help

NM_000431.4(MVK):c.447C>G (p.Tyr149Ter)

Allele ID
103485
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109581470 (GRCh38) GRCh38 UCSC
12: 110019275 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110019275C>G
NC_000012.12:g.109581470C>G
NM_000431.4:c.447C>G MANE Select NP_000422.1:p.Tyr149Ter nonsense
... more HGVS
Protein change
Y149*
Other names
-
Canonical SPDI
NC_000012.12:109581469:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA149836
dbSNP: rs104895299
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000083845.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MVK - - GRCh38
GRCh37
333 369

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
not provided
(-)
no assertion provided
Method: not provided
Hyperimmunoglobulin D with periodic fever
Allele origin: not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000115947.1
Submitted: (Jun 07, 2010)
Comment:
also involved in OMIM 25117
Evidence details

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
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Houten SM European journal of human genetics : EJHG 2001 PMID: 11313768

Text-mined citations for rs104895299...

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 17, 2020