chr16:89620340:G>C Detail (hg19) (SPG7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:89,620,340-89,620,340 |
| hg38 | chr16:89,553,932-89,553,932 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003119.3:c.2054G>C | NP_003110.1:p.Ser685Thr |
| Ensemble | ENST00000645897.1:c.1613G>C | ENST00000645897.1:p.Ser538Thr |
| ENST00000646716.1:c.1127G>C | ENST00000646716.1:p.Ser376Thr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2007-07-24 | no assertion criteria provided | hereditary spastic paraplegia 7 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.560 | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr) AND Hereditary spastic paraplegia 7 | ClinVar | Detail |
| NA | 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
- rs121918357 dbSNP
- Genome
- hg19
- Position
- chr16:89,620,340-89,620,340
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser