chr19:10180505:T>C Detail (hg38) (DNMT1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:10,291,181-10,291,181 View the variant detail on this assembly version. |
hg38 | chr19:10,180,505-10,180,505 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001318730.1:c.290A>G | NP_001305659.1:p.His97Arg |
NM_001379.3:c.290A>G | NP_001370.1:p.His97Arg | |
NM_001130823.2:c.290A>G | NP_001124295.1:p.His97Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.178 |
ToMMo:0.175 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.207 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2015-09-14 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2024-01-31 | criteria provided, multiple submitters, no conflicts | Hereditary sensory neuropathy-deafness-dementia syndrome |
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Detail |
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2018-08-30 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | azoospermia | To explore the relationship between DNMT1 and spermatogenesis impairment, polymo... | BeFree | 24631383 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) AND not specified | ClinVar | Detail |
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) AND Hereditary sensory neuropathy-deafness-dementia synd... | ClinVar | Detail |
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) AND not provided | ClinVar | Detail |
To explore the relationship between DNMT1 and spermatogenesis impairment, polymorphic distributions ... | DisGeNET | 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
- rs16999593 dbSNP
- Genome
- hg38
- Position
- chr19:10,180,505-10,180,505
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 130.17
- Standard deviation of sample read depth (HGVD)
- 59.53
- Number of reference allele (HGVD)
- 1990
- Number of alternative allele (HGVD)
- 430
- Allele Frequency (HGVD)
- 0.17768595041322313
- Gene Symbol (HGVD)
- DNMT1
- 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))
- rs16999593
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1749
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2931
- 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)
- 1788
- East Asian Heterozygous Counts (ExAC)
- 1410
- East Asian Homozygous Counts (ExAC)
- 189
- East Asian Allele Frequency (ExAC)
- 0.20660966027270627
- Chromosome Counts in All Race (ExAC)
- 121412
- Allele Counts in All Race (ExAC)
- 2637
- Heterozygous Counts in All Race (ExAC)
- 2209
- Homozygous Counts in All Race (ExAC)
- 214
- Allele Frequency in All Race (ExAC)
- 0.021719434652258427
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