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rs114368325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs114368325(A;A)
Make rs114368325(A;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position54158136
GeneCYP24A1
is asnp
is mentioned by
dbSNPrs114368325
dbSNP (old)rs114368325
ClinGenrs114368325
ebirs114368325
HLIrs114368325
Exacrs114368325
Varsomers114368325
Maprs114368325
PheGenIrs114368325
Biobankrs114368325
1000 genomesrs114368325
hgdprs114368325
ensemblrs114368325
gopubmedrs114368325
geneviewrs114368325
scholarrs114368325
googlers114368325
pharmgkbrs114368325
gwascentralrs114368325
openSNPrs114368325
23andMers114368325
23andMe allrs114368325
SNP Nexus

SNPshotrs114368325
SNPdbers114368325
MSV3drs114368325
GWAS Ctlgrs114368325
Max Magnitude0
ClinVar
Risk rs114368325(A;A) rs114368325(C;C)
Alt rs114368325(A;A) rs114368325(C;C)
Reference Rs114368325(G;G)
Significance Pathogenic
Disease Idiopathic hypercalcemia of infancy Muscle cramps
Variation info
Gene CYP24A1
CLNDBN Idiopathic hypercalcemia of infancy Muscle cramps
Reversed 0
HGVS NC_000020.10:g.52774675G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022528.29, RCV000414890.1,



GET Evidence
CYP24A1-R396W
aa_change Arg396Trp
aa_change_short R396W
impact pathogenic
qualified_impact Moderate clinical importance, Likely pathogenic
overall_frequency 0.000650678
summary Several report strongly confirm this is associated with hypercalcemia of infancy, acting in a recessive manner. The condition is rare, and is described as "idiopathic" (sporadic) – it's unclear what the risk is for the condition, if an individual carries homozygous or compound heterozygous genotype.