chr3:4741524:C>T Detail (hg19) (ITPR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:4,741,524-4,741,524 |
| hg38 | chr3:4,699,840-4,699,840 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001099952.2:c.4408C>T | NP_001093422.2:p.His1470Tyr |
| NM_002222.5:c.4363C>T | NP_002213.5:p.His1455Tyr | |
| Ensemble | ENST00000354582.12:c.4408C>T | ENST00000354582.12:p.His1470Tyr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2018-02-09 | criteria provided, single submitter | spinocerebellar ataxia type 29 |
inherited
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001378452.1(ITPR1):c.4435C>T (p.His1479Tyr) AND Spinocerebellar ataxia type 29 | 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
- rs943946433 dbSNP
- Genome
- hg19
- Position
- chr3:4,741,524-4,741,524
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser