Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Leu1087GlnfsTer31 (p.L1087Qfs*31)
(
ENST00000512211.7,
ENST00000504915.3,
ENST00000508376.6,
ENST00000257430.9,
ENST00000507379.6,
ENST00000509732.6,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Leu1087GlnfsTer31 (p.L1087Qfs*31) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.3260_3261del (p.Leu1087fs) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 151916
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.3314_3315del
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.2957_2958del
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.3185_3186del
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.3083_3084del
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.2780_2781del
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.3176_3177del
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.3137_3138del
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.2882_2883del
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.3290_3291del
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.3260_3261del
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.3260_3261del
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.2987_2988del
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.3260_3261del
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.3206_3207del
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.2411_2412del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-02-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000131192
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs