chr12:102045163:C>G Detail (hg19) (MYBPC1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,045,163-102,045,163 |
| hg38 | chr12:101,651,385-101,651,385 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001254720.1:c.1407C>G | NP_001241649.1:p.His469Gln |
| NM_206820.2:c.1443C>G | NP_996556.1:p.His481Gln | |
| NM_206821.2:c.1443C>G | NP_996557.1:p.His481Gln |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.309 |
| ToMMo:0.315 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.294 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2013-08-15 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2021-09-05 | criteria provided, multiple submitters, no conflicts | Arthrogryposis, distal, type 1B |
germline
|
Detail |
|
Benign
|
2019-09-04 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2021-09-05 | criteria provided, single submitter | lethal congenital contracture syndrome 4 |
germline
|
Detail |
|
Benign
|
2021-09-05 | criteria provided, single submitter | Myopathy, congenital, with tremor |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) AND not specified | ClinVar | Detail |
| NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) AND Arthrogryposis, distal, type 1B | ClinVar | Detail |
| NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) AND not provided | ClinVar | Detail |
| NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) AND Lethal congenital contracture syndrome 4 | ClinVar | Detail |
| NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) AND Myopathy, congenital, with tremor | 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
- rs3817552 dbSNP
- Genome
- hg19
- Position
- chr12:102,045,163-102,045,163
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1184
- Mean of sample read depth (HGVD)
- 33.69
- Standard deviation of sample read depth (HGVD)
- 32.47
- Number of reference allele (HGVD)
- 1637
- Number of alternative allele (HGVD)
- 731
- Allele Frequency (HGVD)
- 0.30869932432432434
- Gene Symbol (HGVD)
- MYBPC1
- 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))
- rs3817552
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.315
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5280
- 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)
- 2548
- East Asian Heterozygous Counts (ExAC)
- 1798
- East Asian Homozygous Counts (ExAC)
- 375
- East Asian Allele Frequency (ExAC)
- 0.29443032123873353
- Chromosome Counts in All Race (ExAC)
- 121384
- Allele Counts in All Race (ExAC)
- 19068
- Heterozygous Counts in All Race (ExAC)
- 15690
- Homozygous Counts in All Race (ExAC)
- 1689
- Allele Frequency in All Race (ExAC)
- 0.1570882488631121
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