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rs104895304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104895304(C;C)
Make rs104895304(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109591275
GeneMVK
is asnp
is mentioned by
dbSNPrs104895304
ebirs104895304
HLIrs104895304
Exacrs104895304
Varsomers104895304
Maprs104895304
PheGenIrs104895304
hapmaprs104895304
1000 genomesrs104895304
hgdprs104895304
ensemblrs104895304
gopubmedrs104895304
geneviewrs104895304
scholarrs104895304
googlers104895304
pharmgkbrs104895304
gwascentralrs104895304
openSNPrs104895304
23andMers104895304
23andMe allrs104895304
SNP Nexus

SNPshotrs104895304
SNPdbers104895304
MSV3drs104895304
GWAS Ctlgrs104895304
Max Magnitude0
OMIM251170
Desc
Variant0004
Relatedalso
OMIM260920
Desc
Variant
Relatedalso
ClinVar
Risk rs104895304(C;C)
Alt rs104895304(C;C)
Reference rs104895304(T;T)
Significance Pathogenic
Disease Hyperimmunoglobulin D with periodic fever Mevalonic aciduria not provided
Variation info
Gene MVK
CLNDBN Hyperimmunoglobulin D with periodic fever Mevalonic aciduria not provided
Reversed 0
HGVS NC_000012.11:g.110029080T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012709.18, RCV000012710.17, RCV000191109.1, RCV000218157.1,


[PMID 10369261] Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.


[PMID 10369262] Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.


[PMID 10417275OA-icon.png] Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.