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rs36070283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs36070283(A;A)
Make rs36070283(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position18765448
GeneCRTC1
is asnp
is mentioned by
dbSNPrs36070283
ebirs36070283
HLIrs36070283
Exacrs36070283
Varsomers36070283
Maprs36070283
PheGenIrs36070283
hapmaprs36070283
1000 genomesrs36070283
hgdprs36070283
ensemblrs36070283
gopubmedrs36070283
geneviewrs36070283
scholarrs36070283
googlers36070283
pharmgkbrs36070283
gwascentralrs36070283
openSNPrs36070283
23andMers36070283
23andMe allrs36070283
SNP Nexus

SNPshotrs36070283
SNPdbers36070283
MSV3drs36070283
GWAS Ctlgrs36070283
GMAF0.04867
Max Magnitude0
Venter snp
Source plos
Gene CRTC1_HUMAN
allele A
frequency
sift TOLERATED
HuRef 1103691105730
Disease Association A chromosomal aberration involving MECT1 is found in mucoepidermoid carcinomas, benign Warthin tumors and clear cell hidradenomas. Translocation t(11;19)(q21;p13) with MAML2. The fusion protein consists of the N-terminus of MECT1 joined to the C-terminus of MAML2. The reciprocal fusion protein consisting of the N-terminus of MAML2 joined to the C-terminus of MECT1 has been detected in a small number of mucoepidermoid carcinomas.



GET Evidence
CRTC1-V327I
aa_change Val327Ile
aa_change_short V327I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0699944
summary