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rs386833843

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833843(-;-)
Make rs386833843(-;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144515324
GeneRECQL4
is asnp
is mentioned by
dbSNPrs386833843
ebirs386833843
HLIrs386833843
Exacrs386833843
Varsomers386833843
Maprs386833843
PheGenIrs386833843
hapmaprs386833843
1000 genomesrs386833843
hgdprs386833843
ensemblrs386833843
gopubmedrs386833843
geneviewrs386833843
scholarrs386833843
googlers386833843
pharmgkbrs386833843
gwascentralrs386833843
openSNPrs386833843
23andMers386833843
23andMe allrs386833843
SNP Nexus

SNPshotrs386833843
SNPdbers386833843
MSV3drs386833843
GWAS Ctlgrs386833843
Max Magnitude0
ClinVar
Risk rs386833843(;)
Alt rs386833843(;)
Reference rs386833843(T;T)
Significance Pathogenic
Disease Rapadilino syndrome
Variation info
Gene RECQL4
CLNDBN Rapadilino syndrome
Reversed 1
HGVS NC_000008.10:g.145740708delA
CLNSRC ClinVar
CLNACC RCV000049811.1,


[PMID 12952869] Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.


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