Annotation Detail
Information
- Associated Genes
- MUTYH
- Associated Variants
-
MUTYH p.Gln335Ter (p.Q335*), ENSG00000288208 p.Gln506Ter (p.Q506*)
(
ENST00000372110.7,
ENST00000713750.1,
ENST00000710952.2,
ENST00000529892.6,
ENST00000372098.7,
ENST00000448481.5,
ENST00000672818.3,
ENST00000531105.5,
ENST00000488731.6,
ENST00000713751.1,
ENST00000355498.6,
ENST00000412971.6,
ENST00000528013.6,
ENST00000372104.5,
ENST00000354383.10,
ENST00000456914.7,
ENST00000483127.2,
ENST00000672314.2,
ENST00000372115.7,
ENST00000529984.5 )
MUTYH p.Gln335Ter (p.Q335*), ENSG00000288208 p.Gln506Ter (p.Q506*) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 ) - Associated Disease
- familial adenomatous polyposis 2
- Source Database
- ClinVar
- Description
- NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) AND Familial adenomatous polyposis 2
- ClinVar Allele ID
- 133292
- ClinVar RefSeq Alternation Syntax
- NM_001293196.2:c.652C>T
- ClinVar RefSeq Alternation Syntax
- NM_001048174.2:c.928C>T
- ClinVar RefSeq Alternation Syntax
- NM_001350650.2:c.583C>T
- ClinVar RefSeq Alternation Syntax
- NR_146883.2:n.1005C>T
- ClinVar RefSeq Alternation Syntax
- NM_001128425.2:c.1012C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293195.2:c.928C>T
- ClinVar RefSeq Alternation Syntax
- NM_001048171.2:c.928C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293192.2:c.652C>T
- ClinVar RefSeq Alternation Syntax
- NM_001048173.2:c.928C>T
- ClinVar RefSeq Alternation Syntax
- NM_012222.3:c.1003C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293190.2:c.973C>T
- ClinVar RefSeq Alternation Syntax
- NM_001350651.2:c.583C>T
- ClinVar RefSeq Alternation Syntax
- NM_001048172.2:c.931C>T
- ClinVar RefSeq Alternation Syntax
- NR_146882.2:n.1156C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293191.2:c.961C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-29
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000465024
- ClinVar Disease
- Familial adenomatous polyposis 2
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs