Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833846

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGGG;CGGG) 0 common in clinvar
Make rs386833846(-;-)
Make rs386833846(-;CGGG)
ReferenceGRCh38 38.1/141
Chromosome8
Position144514098
GeneRECQL4
is asnp
is mentioned by
dbSNPrs386833846
ebirs386833846
HLIrs386833846
Exacrs386833846
Varsomers386833846
Maprs386833846
PheGenIrs386833846
hapmaprs386833846
1000 genomesrs386833846
hgdprs386833846
ensemblrs386833846
gopubmedrs386833846
geneviewrs386833846
scholarrs386833846
googlers386833846
pharmgkbrs386833846
gwascentralrs386833846
openSNPrs386833846
23andMers386833846
23andMe allrs386833846
SNP Nexus

SNPshotrs386833846
SNPdbers386833846
MSV3drs386833846
GWAS Ctlgrs386833846
Max Magnitude0
ClinVar
Risk rs386833846(;)
Alt rs386833846(;)
Reference rs386833846(CGGG;CGGG)
Significance Probable-Pathogenic
Disease Rapadilino syndrome
Variation info
Gene RECQL4
CLNDBN Rapadilino syndrome
Reversed 1
HGVS NC_000008.10:g.145739482_145739485delCCCG
CLNSRC ClinVar
CLNACC RCV000049814.1,


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