Annotation Detail
Information
- Associated Genes
- MUTYH
- Associated Variants
-
MUTYH p.Val243Phe (p.V243F), ENSG00000288208 p.Val414Phe (p.V414F)
(
ENST00000448481.5,
ENST00000372098.7,
ENST00000529892.6,
ENST00000531105.5,
ENST00000672818.3,
ENST00000713750.1,
ENST00000372110.7,
ENST00000710952.2,
ENST00000372104.5,
ENST00000412971.6,
ENST00000528013.6,
ENST00000355498.6,
ENST00000529984.5,
ENST00000372115.7,
ENST00000483127.2,
ENST00000672314.2,
ENST00000354383.10,
ENST00000456914.7,
ENST00000488731.6,
ENST00000713751.1 )
MUTYH p.Val243Phe (p.V243F), ENSG00000288208 p.Val414Phe (p.V414F) ( 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
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 139702
- ClinVar RefSeq Alternation Syntax
- NM_001048174.2:c.652G>T
- ClinVar RefSeq Alternation Syntax
- NM_001293196.2:c.376G>T
- ClinVar RefSeq Alternation Syntax
- NM_001350650.2:c.307G>T
- ClinVar RefSeq Alternation Syntax
- NM_012222.3:c.727G>T
- ClinVar RefSeq Alternation Syntax
- NM_001128425.2:c.736G>T
- ClinVar RefSeq Alternation Syntax
- NM_001293192.2:c.376G>T
- ClinVar RefSeq Alternation Syntax
- NR_146883.2:n.729G>T
- ClinVar RefSeq Alternation Syntax
- NM_001048171.2:c.652G>T
- ClinVar RefSeq Alternation Syntax
- NM_001048173.2:c.652G>T
- ClinVar RefSeq Alternation Syntax
- NR_146882.2:n.880G>T
- ClinVar RefSeq Alternation Syntax
- NM_001293195.2:c.652G>T
- ClinVar RefSeq Alternation Syntax
- NM_001293190.2:c.697G>T
- ClinVar RefSeq Alternation Syntax
- NM_001048172.2:c.655G>T
- ClinVar RefSeq Alternation Syntax
- NM_001293191.2:c.685G>T
- ClinVar RefSeq Alternation Syntax
- NM_001350651.2:c.307G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-10-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000131615
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs