Annotation Detail

Information
Associated Genes
ALK
Associated Variants
ALK p.Thr1087Ile (p.T1087I) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 )
ALK p.Thr1087Ile (p.T1087I) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 )
Associated Disease
ovarian cancer
Source Database
ClinVar
Description
NM_004304.5(ALK):c.3260C>T (p.Thr1087Ile) AND Ovarian cancer
ClinVar Allele ID
34247
ClinVar RefSeq Alternation Syntax
NM_004304.5:c.3260C>T
ClinVar RefSeq Alternation Syntax
NM_001353765.2:c.56C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2022-01-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003153305
ClinVar Disease
Ovarian cancer
Observed Origin Sample
germline
Drugs