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rs386833854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs386833854(-;-)
Make rs386833854(-;CG)
ReferenceGRCh38 38.1/141
Chromosome8
Position144511458
GeneMFSD3, RECQL4
is asnp
is mentioned by
dbSNPrs386833854
ebirs386833854
HLIrs386833854
Exacrs386833854
Varsomers386833854
Maprs386833854
PheGenIrs386833854
hapmaprs386833854
1000 genomesrs386833854
hgdprs386833854
ensemblrs386833854
gopubmedrs386833854
geneviewrs386833854
scholarrs386833854
googlers386833854
pharmgkbrs386833854
gwascentralrs386833854
openSNPrs386833854
23andMers386833854
23andMe allrs386833854
SNP Nexus

SNPshotrs386833854
SNPdbers386833854
MSV3drs386833854
GWAS Ctlgrs386833854
Max Magnitude0
ClinVar
Risk rs386833854(;)
Alt rs386833854(;)
Reference rs386833854(CG;CG)
Significance Probable-Pathogenic
Disease Rapadilino syndrome
Variation info
Gene MFSD3 RECQL4
CLNDBN Rapadilino syndrome
Reversed 1
HGVS NC_000008.10:g.145736841_145736842delCG
CLNSRC ClinVar
CLNACC RCV000049823.1,


[PMID 18716613OA-icon.png] The mutation spectrum in RECQL4 diseases.