Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Lys1608AsnfsTer42 (p.K1608Nfs*42)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Lys1608AsnfsTer42 (p.K1608Nfs*42) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- familial adenomatous polyposis 1
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.4824_4827delinsTAC (p.Lys1608fs) AND Familial adenomatous polyposis 1
- ClinVar Allele ID
- 182408
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.4446_4449delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.4521_4524delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.4854_4857delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.4740_4743delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.4551_4554delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.4647_4650delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.4824_4827delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.4701_4704delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.4824_4827delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.4878_4881delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.4770_4773delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.4824_4827delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.4344_4347delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.4749_4752delinsTAC
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.3975_3978delinsTAC
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-01-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003650420
- ClinVar Disease
- Familial adenomatous polyposis 1
- Observed Origin Sample
- germline
Drugs