chr8:125078767:G>A Detail (hg38) (WASHC5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:126,091,009-126,091,009 View the variant detail on this assembly version. |
| hg38 | chr8:125,078,767-125,078,767 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_014846.3:c.682C>T | NP_055661.3:p.Arg228Ter |
| NM_001330609.1:c.238C>T | NP_001317538.1:p.Arg80Ter | |
| Ensemble | ENST00000318410.12:c.682C>T | ENST00000318410.12:p.Arg228Ter |
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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2018-03-29 | criteria provided, single submitter | Ritscher-Schinzel syndrome 1,hereditary spastic paraplegia 8 |
germline
|
Detail |
|
Pathogenic
|
2018-03-29 | criteria provided, single submitter | Ritscher-Schinzel syndrome 1,hereditary spastic paraplegia 8 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) AND multiple conditions | ClinVar | Detail |
| NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) AND multiple conditions | 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
- rs754463353 dbSNP
- Genome
- hg38
- Position
- chr8:125,078,767-125,078,767
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8648
- 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)
- 121340
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.241305422778968E-6
Genome browser