{{Rsnum
|rsid=1796993
|Gene=TMC1
|Chromosome=9
|position=72700522
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2746
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=TMC1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 67.3 | 31.0 | 1.8
| HCB | 31.9 | 52.6 | 15.6
| JPT | 36.3 | 46.0 | 17.7
| YRI | 45.5 | 42.8 | 11.7
| ASW | 49.1 | 42.1 | 8.8
| CHB | 31.9 | 52.6 | 15.6
| CHD | 38.5 | 45.9 | 15.6
| GIH | 53.5 | 38.6 | 7.9
| LWK | 52.3 | 40.4 | 7.3
| MEX | 41.4 | 39.7 | 19.0
| MKK | 46.8 | 41.0 | 12.2
| TSI | 68.6 | 30.4 | 1.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=1796993
|allele=A
|frequency=0.217
|uid=1103652094873
|type=heterozygous_SNP
|hugo=TMC1
|ensembl gene=ENSG00000165091
|ensembl transcript=ENST00000297784
|sift=TOLERATED
|disease=Defects in TMC1 are the cause of autosomal recessive neurosensory deafness 7 (DFNB7) (MIM:600974); also known as autosomal recessive neurosensory deafness 11 (DFNB11). This nonsyndromic sensorineural hearing loss is congenital and profound.
}}

{{ClinVar
|rsid=1796993
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=75315438
|CHROM=9
|GMAF=0.2761
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05016800000017051f100101
|GENEINFO=TMC1:117531
|GENE_NAME=TMC1
|GENE_ID=117531
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.75315438G>A
|CLNORIGIN=1
|CLNSIG=2
|Tags=RV;PM;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.7254; 0.2746
|CLNACC=RCV000041139.1
|CLNDBN=AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|COMMON=1
|Disease=AllHighlyPenetrant
}}

{{PMID|16134132|OA=1
}} Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

{{GET Evidence
|gene=TMC1
|aa_change=Glu81Lys
|aa_change_short=E81K
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1796993
|overall_frequency_n=2175
|overall_frequency_d=10750
|overall_frequency=0.202326
|n_genomes=18
|n_genomes_annotated=0
|n_haplomes=21
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}