GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1 Detail (hg38) (TTN, TTN-AS1, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC129388955)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:179,418,306-179,502,120 |
| hg38 | chr2:178,553,579-178,637,393 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | |||
| Ensembl | |||
| NCBI | |||
| Gene Cards | |||
| OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-08-24 | criteria provided, single submitter | dilated cardiomyopathy 1G |
de novo
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1 AND Dilated cardiomyopathy 1G | 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
- -
- Genome
- hg38
- Position
- chr2:178,553,579-178,637,393
- Variant Type
- cnv
Genome browser