Annotation Detail
Information
- Associated Genes
- MYBPC1
- Associated Variants
-
MYBPC1 p.His481Gln (p.H481Q)
(
ENST00000549145.5,
ENST00000541119.5,
ENST00000553190.5,
ENST00000551300.5,
ENST00000361466.7,
ENST00000545503.6,
ENST00000550270.1,
ENST00000361685.6,
ENST00000547405.5,
ENST00000392934.7,
ENST00000547509.5,
ENST00000452455.6,
ENST00000536007.5 )
MYBPC1 p.His481Gln (p.H481Q) ( ENST00000547509.5, ENST00000549145.5, ENST00000550270.1, ENST00000551300.5, ENST00000553190.5, ENST00000361466.7, ENST00000361685.6, ENST00000392934.7, ENST00000452455.6, ENST00000536007.5, ENST00000541119.5, ENST00000545503.6, ENST00000547405.5 ) - Associated Disease
- Myopathy, congenital, with tremor
- Source Database
- ClinVar
- Description
- NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) AND Myopathy, congenital, with tremor
- ClinVar Allele ID
- 135088
- ClinVar RefSeq Alternation Syntax
- NM_001254720.3:c.1407C>G
- ClinVar RefSeq Alternation Syntax
- NM_001404679.1:c.1308C>G
- ClinVar RefSeq Alternation Syntax
- NM_001254718.3:c.1443C>G
- ClinVar RefSeq Alternation Syntax
- NM_001404675.1:c.1518C>G
- ClinVar RefSeq Alternation Syntax
- NM_001254723.3:c.1404C>G
- ClinVar RefSeq Alternation Syntax
- NM_001254721.3:c.1386C>G
- ClinVar RefSeq Alternation Syntax
- NM_001254719.3:c.1443C>G
- ClinVar RefSeq Alternation Syntax
- NM_002465.4:c.1518C>G
- ClinVar RefSeq Alternation Syntax
- NM_206819.4:c.1518C>G
- ClinVar RefSeq Alternation Syntax
- NM_001254722.3:c.1365C>G
- ClinVar RefSeq Alternation Syntax
- NM_001404681.1:c.1308C>G
- ClinVar RefSeq Alternation Syntax
- NM_001404676.1:c.1386C>G
- ClinVar RefSeq Alternation Syntax
- NM_206820.4:c.1443C>G
- ClinVar RefSeq Alternation Syntax
- NM_001404677.1:c.1308C>G
- ClinVar RefSeq Alternation Syntax
- NM_001404678.1:c.1386C>G
- ClinVar RefSeq Alternation Syntax
- NM_206821.4:c.1443C>G
- ClinVar RefSeq Alternation Syntax
- NM_001404680.1:c.1365C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001775587
- ClinVar Disease
- Myopathy, congenital, with tremor
- Observed Origin Sample
- germline
Drugs