Annotation Detail
Information
- Associated Genes
- TTN TTN-AS1
- Associated Variants
-
TTN p.Arg34594His (p.R34594H)
(
ENST00000342175.12,
ENST00000460472.6,
ENST00000359218.11,
ENST00000589042.5,
ENST00000342992.11,
ENST00000591111.5,
ENST00000446966.2,
ENST00000715174.1 )
TTN p.Arg34594His (p.R34594H) ( ENST00000342175.12, ENST00000342992.11, ENST00000359218.11, ENST00000446966.2, ENST00000460472.6, ENST00000589042.5, ENST00000591111.5, ENST00000715174.1 ) - Associated Disease
- autosomal recessive limb-girdle muscular dystrophy type 2J
- Source Database
- ClinVar
- Description
- NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) AND Autosomal recessive limb-girdle muscular dystrophy type 2J
- ClinVar Allele ID
- 56827
- ClinVar RefSeq Alternation Syntax
- NM_133432.3:c.76961G>A
- ClinVar RefSeq Alternation Syntax
- NM_001267550.2:c.103781G>A
- ClinVar RefSeq Alternation Syntax
- NM_003319.4:c.76586G>A
- ClinVar RefSeq Alternation Syntax
- NM_133378.4:c.96077G>A
- ClinVar RefSeq Alternation Syntax
- NM_001256850.1:c.98858G>A
- ClinVar RefSeq Alternation Syntax
- NM_133437.4:c.77162G>A
- 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/RCV000366156
- ClinVar Disease
- Autosomal recessive limb-girdle muscular dystrophy type 2J
- Observed Origin Sample
- germline
Drugs