chr1:154192008:G>A Detail (hg38) (TPM3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:154,164,484-154,164,484 View the variant detail on this assembly version. |
| hg38 | chr1:154,192,008-154,192,008 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_152263.3:c.11C>T | NP_689476.2:p.Ala4Val |
| Ensemble | ENST00000271850.11:c.11C>T | ENST00000271850.11:p.Ala4Val |
| ENST00000368530.7:c.11C>T | ENST00000368530.7:p.Ala4Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Congenital myopathy with fiber type disproportion |
unknown
|
Detail | |
|
Uncertain significance
|
2019-09-24 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2022-09-12 | criteria provided, single submitter | Congenital myopathy with fiber type disproportion,Congenital myopathy 4B, autosomal recessive |
germline
|
Detail |
|
Uncertain significance
|
2022-09-12 | criteria provided, single submitter | Congenital myopathy with fiber type disproportion,Congenital myopathy 4B, autosomal recessive |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.361 | Congenital Fiber Type Disproportion | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_152263.4(TPM3):c.11C>T (p.Ala4Val) AND Congenital myopathy with fiber type disproportion | ClinVar | Detail |
| NM_152263.4(TPM3):c.11C>T (p.Ala4Val) AND not provided | ClinVar | Detail |
| NM_152263.4(TPM3):c.11C>T (p.Ala4Val) AND multiple conditions | ClinVar | Detail |
| NM_152263.4(TPM3):c.11C>T (p.Ala4Val) AND multiple conditions | 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
- rs199474711 dbSNP
- Genome
- hg38
- Position
- chr1:154,192,008-154,192,008
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser