Annotation Detail
Information
- Associated Genes
- TTN LOC101927055
- Associated Variants
-
TTN p.Leu1443Pro (p.L1443P)
(
ENST00000342175.12,
ENST00000342992.11,
ENST00000359218.11,
ENST00000360870.10,
ENST00000446966.2,
ENST00000460472.6,
ENST00000589042.5,
ENST00000591111.5,
ENST00000634225.2,
ENST00000715174.1 )
TTN p.Leu1443Pro (p.L1443P) ( ENST00000342175.12, ENST00000342992.11, ENST00000359218.11, ENST00000360870.10, ENST00000446966.2, ENST00000460472.6, ENST00000589042.5, ENST00000591111.5, ENST00000634225.2, ENST00000715174.1 ) - Associated Disease
- Early-onset myopathy with fatal cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND Early-onset myopathy with fatal cardiomyopathy
- ClinVar Allele ID
- 56214
- ClinVar RefSeq Alternation Syntax
- NM_133379.5:c.4328T>C
- ClinVar RefSeq Alternation Syntax
- NM_133432.3:c.4190T>C
- ClinVar RefSeq Alternation Syntax
- NM_133437.4:c.4190T>C
- ClinVar RefSeq Alternation Syntax
- NM_003319.4:c.4190T>C
- ClinVar RefSeq Alternation Syntax
- NR_120594.1:n.931A>G
- ClinVar RefSeq Alternation Syntax
- NM_001267550.2:c.4328T>C
- ClinVar RefSeq Alternation Syntax
- NM_001256850.1:c.4328T>C
- ClinVar RefSeq Alternation Syntax
- NM_133378.4:c.4328T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000392612
- ClinVar Disease
- Early-onset myopathy with fatal cardiomyopathy
- Observed Origin Sample
- germline
Drugs