{{Rsnum
|rsid=36070283
|Gene=CRTC1
|Chromosome=19
|position=18765448
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.04867
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CRTC1
}}{{Venter SNP
|rsid=36070283
|allele=A
|frequency=
|uid=1103691105730
|type=heterozygous_SNP
|hugo=CRTC1_HUMAN
|ensembl gene=ENSG00000105662
|ensembl transcript=ENST00000321949
|sift=TOLERATED
|disease=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
|gene=CRTC1
|aa_change=Val327Ile
|aa_change_short=V327I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs36070283
|overall_frequency_n=753
|overall_frequency_d=10758
|overall_frequency=0.0699944
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|nblosum100=-4
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}