Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Glu1317Gln (p.E1317Q)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Glu1317Gln (p.E1317Q) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) AND not specified
- ClinVar Allele ID
- 15868
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.3772G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.3865G>C
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.3949G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.3469G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.3979G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.3826G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.3646G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.3571G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.3676G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.3949G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.4003G>C
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.3895G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.3874G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.3100G>C
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.3949G>C
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2023-08-15
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000035073
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs