chr15:62148607:G>A Detail (hg19) (VPS13C)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:62,148,607-62,148,607 |
| hg38 | chr15:61,856,408-61,856,408 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_017684.4:c.10825C>T | NP_060154.3:p.Arg3609Ter |
| Ensemble | ENST00000644861.2:c.10954C>T | ENST00000644861.2:p.Arg3652Ter |
| ENST00000249837.7:c.10825C>T | ENST00000249837.7:p.Arg3609Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2019-10-28 | criteria provided, single submitter | frontotemporal dementia,Primary degenerative dementia of the Alzheimer type, presenile onset |
unknown
|
Detail |
|
Uncertain significance
|
2019-10-28 | criteria provided, single submitter | frontotemporal dementia,Primary degenerative dementia of the Alzheimer type, presenile onset |
unknown
|
Detail |
Pathogenic
Likely pathogenic
|
2024-01-02 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Uncertain significance
|
2023-12-21 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) AND multiple conditions | ClinVar | Detail |
| NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) AND multiple conditions | ClinVar | Detail |
| NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) AND not provided | ClinVar | Detail |
| NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) AND not specified | 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
- rs138846118 dbSNP
- Genome
- hg19
- Position
- chr15:62,148,607-62,148,607
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8582
- 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)
- 120740
- Allele Counts in All Race (ExAC)
- 21
- Heterozygous Counts in All Race (ExAC)
- 21
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.739274474076528E-4
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