{{Rsnum
|rsid=35719940
|Gene=TERT
|Chromosome=5
|position=1254479
|Orientation=minus
|GMAF=0.009183
|Gene_s=TERT
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|rsid=35719940
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=1254594
|CHROM=5
|GMAF=0.0092
|dbSNPBuildID=126
|SSR=0
|SAO=0
|VP=0x050160000000040116110100
|GENEINFO=TERT:7015
|GENE_NAME=TERT
|GENE_ID=7015
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.1254594C>T
|CLNSIG=255
|CLNCUI=609135
|CLNDBN=LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO; Aplastic anemia
|Tags=RV;PM;SLO;VLD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9908; 0.009183
|CLNACC=RCV000030632.1; RCV000032393.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK22301:C0002874:609135:88:306058006
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK22301; 187270.0022
|COMMON=1
|Disease=LEUKEMIA; Aplastic anemia
}}{{GET Evidence
|gene=TERT
|aa_change=Ala1062Thr
|aa_change_short=A1062T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs35719940
|overall_frequency_n=166
|overall_frequency_d=10342
|overall_frequency=0.0160511
|n_genomes=1
|n_genomes_annotated=1
|n_haplomes=1
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_vitro=2
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|webscore=N
}}