Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Gly2502Ser (p.G2502S)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Gly2502Ser (p.G2502S) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Carcinoma of colon
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) AND Carcinoma of colon
- ClinVar Allele ID
- 49953
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.7558G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.7126G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.7420G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.7327G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.7504G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.7231G>A
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.7504G>A
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.7450G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.7201G>A
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.7504G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.7381G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.7534G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.6655G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.7429G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.7024G>A
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001353410
- ClinVar Disease
- Carcinoma of colon
- Observed Origin Sample
- unknown
Drugs