Annotation Detail
Information
- Associated Genes
- BIN1
- Associated Variants
-
BIN1 p.Ala319= (p.A319=)
(
ENST00000376113.6,
ENST00000393040.7,
ENST00000409400.1,
ENST00000357970.7,
ENST00000393041.7,
ENST00000259238.8,
ENST00000346226.7,
ENST00000316724.10,
ENST00000351659.7,
ENST00000348750.8,
ENST00000352848.8 )
BIN1 p.Ala319= (p.A319=) ( ENST00000259238.8, ENST00000316724.10, ENST00000346226.7, ENST00000348750.8, ENST00000351659.7, ENST00000352848.8, ENST00000357970.7, ENST00000376113.6, ENST00000393040.7, ENST00000393041.7, ENST00000409400.1 ) - Associated Disease
- Myopathy, centronuclear, 2
- Source Database
- ClinVar
- Description
- NM_139343.3(BIN1):c.957C>T (p.Ala319=) AND Myopathy, centronuclear, 2
- ClinVar Allele ID
- 167872
- ClinVar RefSeq Alternation Syntax
- NM_139347.3:c.864C>T
- ClinVar RefSeq Alternation Syntax
- NM_139350.3:c.864C>T
- ClinVar RefSeq Alternation Syntax
- NM_001320634.1:c.792C>T
- ClinVar RefSeq Alternation Syntax
- NM_001320641.2:c.864C>T
- ClinVar RefSeq Alternation Syntax
- NM_139343.3:c.957C>T
- ClinVar RefSeq Alternation Syntax
- NM_001320632.2:c.909C>T
- ClinVar RefSeq Alternation Syntax
- NM_001320640.2:c.957C>T
- ClinVar RefSeq Alternation Syntax
- NM_139345.3:c.957C>T
- ClinVar RefSeq Alternation Syntax
- NM_004305.4:c.909C>T
- ClinVar RefSeq Alternation Syntax
- NM_139349.3:c.864C>T
- ClinVar RefSeq Alternation Syntax
- NM_139346.3:c.909C>T
- ClinVar RefSeq Alternation Syntax
- NM_001320633.2:c.957C>T
- ClinVar RefSeq Alternation Syntax
- NM_139344.3:c.957C>T
- ClinVar RefSeq Alternation Syntax
- NM_139348.3:c.864C>T
- ClinVar RefSeq Alternation Syntax
- NM_139351.3:c.864C>T
- ClinVar RefSeq Alternation Syntax
- NM_001320642.1:c.876C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000319647
- ClinVar Disease
- Myopathy, centronuclear, 2
- Observed Origin Sample
- germline
Drugs