Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.His1054GlnfsTer2 (p.H1054Qfs*2)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.His1054GlnfsTer2 (p.H1054Qfs*2) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Familial multiple polyposis syndrome
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.3162del (p.His1054fs) AND Familial multiple polyposis syndrome
- ClinVar Allele ID
- 51411
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.3192del
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.3162del
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.3078del
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.3039del
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.2985del
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.3108del
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.3162del
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.2313del
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.3087del
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.2682del
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.3216del
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.2889del
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.2859del
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.3162del
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.2784del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-11-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000035070
- ClinVar Disease
- Familial multiple polyposis syndrome
- Observed Origin Sample
- germline
Drugs