chr1:154145448:G>C Detail (hg19) (TPM3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:154,145,448-154,145,448 |
| hg38 | chr1:154,172,972-154,172,972 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001278189.1:c.391C>G | NP_001265118.1:p.Arg131Gly |
| NM_001278191.1:c.121C>G | NP_001265120.1:p.Arg41Gly | |
| NM_001043352.1:c.391C>G | NP_001036817.1:p.Arg131Gly |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
other |
germline
|
MGS000074
(TMGS000150) |
Kenjiro Kosaki Nishino Ichizo |
Keio University National Center of Neurology and Psychiatry |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Congenital myopathy with fiber type disproportion |
unknown
|
Detail | |
|
Pathogenic
|
2017-04-27 | criteria provided, single submitter | not provided |
germline
not provided
|
Detail |
|
Likely pathogenic
|
2015-12-01 | criteria provided, single submitter | Congenital myopathy 4B, autosomal recessive |
unknown
|
Detail |
|
Pathogenic
|
2023-04-12 | criteria provided, single submitter | Congenital myopathy 4B, autosomal recessive,Congenital myopathy with fiber type disproportion |
germline
|
Detail |
|
Pathogenic
|
2023-04-12 | criteria provided, single submitter | Congenital myopathy 4B, autosomal recessive,Congenital myopathy with fiber type disproportion |
germline
|
Detail |
|
Pathogenic
|
2008-03-01 | no assertion criteria provided | Congenital myopathy 4A, autosomal dominant |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.361 | Congenital Fiber Type Disproportion | NA | CLINVAR | Detail | |
| 0.361 | Congenital Fiber Type Disproportion | Congenital fiber type disproportion with delayed fiber type maturation and the a... | BeFree | 23924754 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) AND Congenital myopathy with fiber type disproportion | ClinVar | Detail |
| NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) AND not provided | ClinVar | Detail |
| NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) AND Congenital myopathy 4B, autosomal recessive | ClinVar | Detail |
| NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) AND multiple conditions | ClinVar | Detail |
| NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) AND multiple conditions | ClinVar | Detail |
| NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) AND Congenital myopathy 4A, autosomal dominant | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Congenital fiber type disproportion with delayed fiber type maturation and the appearance of cap str... | 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
- rs121964854 dbSNP
- Genome
- hg19
- Position
- chr1:154,145,448-154,145,448
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser