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

rs386834006

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834006(A;A)
Make rs386834006(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position59064406
GeneTRIM37
is asnp
is mentioned by
dbSNPrs386834006
ebirs386834006
HLIrs386834006
Exacrs386834006
Varsomers386834006
Maprs386834006
PheGenIrs386834006
hapmaprs386834006
1000 genomesrs386834006
hgdprs386834006
ensemblrs386834006
gopubmedrs386834006
geneviewrs386834006
scholarrs386834006
googlers386834006
pharmgkbrs386834006
gwascentralrs386834006
openSNPrs386834006
23andMers386834006
23andMe allrs386834006
SNP Nexus

SNPshotrs386834006
SNPdbers386834006
MSV3drs386834006
GWAS Ctlgrs386834006
Max Magnitude0
ClinVar
Risk rs386834006(A;A)
Alt rs386834006(A;A)
Reference rs386834006(G;G)
Significance Probable-Pathogenic
Disease Mulibrey nanism syndrome
Variation info
Gene TRIM37
CLNDBN Mulibrey nanism syndrome
Reversed 1
HGVS NC_000017.10:g.57141767C>T
CLNSRC ClinVar
CLNACC RCV000049984.1,


[PMID 12754710] A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.