rs104895304

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs104895304(C;C)

Make rs104895304(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109591275

Gene

MVK

is a	snp
is	mentioned by
dbSNP	rs104895304
dbSNP (classic)	rs104895304
ClinGen	rs104895304
ebi	rs104895304
HLI	rs104895304
Exac	rs104895304
Gnomad	rs104895304
Varsome	rs104895304
LitVar	rs104895304
Map	rs104895304
PheGenI	rs104895304
Biobank	rs104895304
1000 genomes	rs104895304
hgdp	rs104895304
ensembl	rs104895304
geneview	rs104895304
scholar	rs104895304
google	rs104895304
pharmgkb	rs104895304
gwascentral	rs104895304
openSNP	rs104895304
23andMe	rs104895304
SNPshot	rs104895304
SNPdbe	rs104895304
MSV3d	rs104895304
GWAS Ctlg	rs104895304

Max Magnitude

0

OMIM	251170
Desc
Variant	0004
Related	also

OMIM	260920
Desc
Variant
Related	also

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 UniProtKB (protein)
CLNACC	RCV000012709.19, RCV000012710.18, 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 10417275] Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.