Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Val2014Ile (p.V2014I)
(
ENST00000257430.9,
ENST00000508376.6,
ENST00000512211.7,
ENST00000507379.6,
ENST00000504915.3,
ENST00000509732.6,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Val2014Ile (p.V2014I) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.6040G>A (p.Val2014Ile) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 496817
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.6040G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.6070G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.5965G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.5767G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.5560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.6094G>A
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.5986G>A
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.6040G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.5956G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.5917G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.5662G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.5191G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.5863G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.5737G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.6040G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-06-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001024834
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs