Annotation Detail

Information
Associated Genes
MYL2
Associated Variants
MYL2 c.402+245T>C ( ENST00000713801.1, ENST00000713803.1, ENST00000548438.1, ENST00000663220.1, ENST00000713831.1, ENST00000713804.1, ENST00000713805.1, ENST00000713800.1, ENST00000713806.1, ENST00000713828.1, ENST00000228841.15, ENST00000713827.1, ENST00000713830.1, ENST00000713829.1, ENST00000713826.1 )
MYL2 c.402+245T>C ( ENST00000228841.15, ENST00000548438.1, ENST00000663220.1, ENST00000713800.1, ENST00000713801.1, ENST00000713803.1, ENST00000713804.1, ENST00000713805.1, ENST00000713806.1, ENST00000713826.1, ENST00000713827.1, ENST00000713828.1, ENST00000713829.1, ENST00000713830.1, ENST00000713831.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000432.4(MYL2):c.402+245T>C AND not provided
ClinVar Allele ID
1249257
ClinVar RefSeq Alternation Syntax
NM_000432.4:c.402+245T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-06-23
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001666689
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs