Annotation Detail

Information
Associated Genes
CTSF
Associated Variants
CTSF c.312+147A>G ( ENST00000677005.1, ENST00000310325.10, ENST00000679160.1, ENST00000678305.1, ENST00000678872.1, ENST00000677587.1, ENST00000679024.1, ENST00000679347.1, ENST00000678471.1, ENST00000526010.2, ENST00000524994.6, ENST00000677896.1 )
CTSF c.312+147A>G ( ENST00000310325.10, ENST00000524994.6, ENST00000526010.2, ENST00000677005.1, ENST00000677587.1, ENST00000677896.1, ENST00000678305.1, ENST00000678471.1, ENST00000678872.1, ENST00000679024.1, ENST00000679160.1, ENST00000679347.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_003793.4(CTSF):c.312+147A>G AND not provided
ClinVar Allele ID
1260235
ClinVar RefSeq Alternation Syntax
NM_003793.4:c.312+147A>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-06-28
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001681715
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs