chr19:15272001:C>T Detail (hg19) (NOTCH3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:15,272,001-15,272,001 |
| hg38 | chr19:15,161,190-15,161,190 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000435.2:c.6438G>A | NP_000426.2:p.Ala2146= |
| Ensemble | ENST00000263388.7:c.6438G>A | ENST00000263388.7:p.Ala2146= |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2018-01-13 | criteria provided, single submitter | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 |
germline
|
Detail |
|
Benign
|
2024-01-29 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) AND not specified | ClinVar | Detail |
| NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) AND Cerebral arteriopathy, autosomal dominant, with subco... | ClinVar | Detail |
| NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) 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
- rs1044008 dbSNP
- Genome
- hg19
- Position
- chr19:15,272,001-15,272,001
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs1044008
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 396
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 11942
- Allele Counts in All Race (ExAC)
- 395
- Heterozygous Counts in All Race (ExAC)
- 381
- Homozygous Counts in All Race (ExAC)
- 7
- Allele Frequency in All Race (ExAC)
- 0.03307653659353542
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