chr1:154145447:C>T Detail (hg19) (TPM3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:154,145,447-154,145,447 |
| hg38 | chr1:154,172,971-154,172,971 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001043351.1:c.392G>A | NP_001036816.1:p.Arg131His |
| NM_001043353.1:c.392G>A | NP_001036818.1:p.Arg131His | |
| NM_152263.3:c.503G>A | NP_689476.2:p.Arg168His |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
NEM1 |
germline
|
MGS000009
(TMGS000039) |
Shoji Tsuji | Tokyo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2020-05-03 | criteria provided, single submitter | Congenital myopathy 4B, autosomal recessive |
unknown
|
Detail |
|
Pathogenic
|
2009-10-01 | no assertion criteria provided | Congenital myopathy 4A, autosomal dominant |
germline
|
Detail |
|
Pathogenic
|
2023-03-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-04-12 | criteria provided, single submitter | Congenital myopathy with fiber type disproportion,Congenital myopathy 4B, autosomal recessive |
germline
|
Detail |
|
Pathogenic
|
2023-04-12 | criteria provided, single submitter | Congenital myopathy with fiber type disproportion,Congenital myopathy 4B, autosomal recessive |
germline
|
Detail |
|
Pathogenic
|
2021-04-26 | criteria provided, single submitter |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.016 | Myopathies, Nemaline | We also report a sixth family in which a recurrent TPM3 mutation (p.Arg168His) w... | BeFree | 18300303 | Detail |
| 0.361 | Congenital Fiber Type Disproportion | NA | CLINVAR | Detail | |
| 0.360 | nemaline myopathy 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND Congenital myopathy 4B, autosomal recessive | ClinVar | Detail |
| NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND Congenital myopathy 4A, autosomal dominant | ClinVar | Detail |
| NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND not provided | ClinVar | Detail |
| NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND multiple conditions | ClinVar | Detail |
| NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND multiple conditions | ClinVar | Detail |
| NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND See cases | ClinVar | Detail |
| We also report a sixth family in which a recurrent TPM3 mutation (p.Arg168His) was associated with h... | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs121964852 dbSNP
- Genome
- hg19
- Position
- chr1:154,145,447-154,145,447
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser