chr9:75431076:C>T Detail (hg19) (TMC1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:75,431,076-75,431,076 |
| hg38 | chr9:72,816,160-72,816,160 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_138691.2:c.1713C>T | NP_619636.2:p.Phe571= |
| Ensemble | ENST00000340019.4:c.1713C>T | ENST00000340019.4:p.Phe571= |
| ENST00000297784.10:c.1713C>T | ENST00000297784.10:p.Phe571= |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.022 |
| ToMMo:0.025 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.010 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
Centenarian |
germline
|
MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2017-08-18 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Likely benign
|
2018-01-12 | criteria provided, single submitter | Autosomal recessive nonsyndromic hearing loss 7 |
germline
|
Detail |
|
Benign
|
2018-01-12 | criteria provided, single submitter | Autosomal dominant nonsyndromic hearing loss 36 |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_138691.3(TMC1):c.1713C>T (p.Phe571=) AND not specified | ClinVar | Detail |
| NM_138691.3(TMC1):c.1713C>T (p.Phe571=) AND Autosomal recessive nonsyndromic hearing loss 7 | ClinVar | Detail |
| NM_138691.3(TMC1):c.1713C>T (p.Phe571=) AND Autosomal dominant nonsyndromic hearing loss 36 | ClinVar | Detail |
| NM_138691.3(TMC1):c.1713C>T (p.Phe571=) AND not provided | ClinVar | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs34532421 dbSNP
- Genome
- hg19
- Position
- chr9:75,431,076-75,431,076
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1204
- Mean of sample read depth (HGVD)
- 52.40
- Standard deviation of sample read depth (HGVD)
- 26.67
- Number of reference allele (HGVD)
- 2354
- Number of alternative allele (HGVD)
- 54
- Allele Frequency (HGVD)
- 0.022425249169435217
- Gene Symbol (HGVD)
- TMC1
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs34532421
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0253
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 424
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 84
- East Asian Heterozygous Counts (ExAC)
- 82
- East Asian Homozygous Counts (ExAC)
- 1
- East Asian Allele Frequency (ExAC)
- 0.009706494106771435
- Chromosome Counts in All Race (ExAC)
- 121316
- Allele Counts in All Race (ExAC)
- 11248
- Heterozygous Counts in All Race (ExAC)
- 9902
- Homozygous Counts in All Race (ExAC)
- 673
- Allele Frequency in All Race (ExAC)
- 0.0927165419235715
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