{{Rsnum
|rsid=35312232
|Gene=TGM1
|Chromosome=14
|position=24255457
|Orientation=plus
|GMAF=0.006887
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=TGM1
}}{{omim
|id=190195
|rsnum=35312232
|variant=0018
}}

{{ClinVar
|rsid=35312232
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=24724663
|CHROM=14
|GMAF=0.0069
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x05026000000004051e110100
|GENEINFO=TGM1:7051
|GENE_NAME=TGM1
|GENE_ID=7051
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.24724663C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=190195.0018
|CLNSIG=5
|CLNCUI=C0020758
|CLNDBN=Autosomal recessive congenital ichthyosis 1
|Disease=Autosomal recessive congenital ichthyosis 1
|CLNACC=RCV000013319.23
|Tags=RV;PM;S3D;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.9931; 0.006887
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1420:C0020758:242300:100976:281122:313:13059002
|COMMON=1
}}

{{GET Evidence
|gene=TGM1
|aa_change=Val518Met
|aa_change_short=V518M
|impact=benign
|qualified_impact=Low clinical importance, Likely benign
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs35312232
|overall_frequency_n=122
|overall_frequency_d=10756
|overall_frequency=0.0113425
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_familial=2
|qualitycomment_familial=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.634
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=5
|webscore=N
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=1
|summary_short=Probably a non-pathogenic polymorphism. It was initially thought to be involved in autosomal recessive congenital ichthyosis, but later authors found the variant in numerous healthy controls.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}