Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Glu1538IlefsTer5 (p.E1538Ifs*5)
(
ENST00000512211.7,
ENST00000508376.6,
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000713638.1,
ENST00000509732.6,
ENST00000713639.1 )
APC p.Glu1538IlefsTer5 (p.E1538Ifs*5) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) AND not provided
- ClinVar Allele ID
- 15862
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.4339_4340del
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.4666_4667del
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.4612_4613del
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.4612_4613del
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.4558_4559del
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.4528_4529del
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.4537_4538del
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.4309_4310del
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.4489_4490del
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.4234_4235del
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.4612_4613del
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.4435_4436del
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.4132_4133del
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.3763_3764del
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.4642_4643del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-07-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001781152
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs