Annotation Detail
Information
- Associated Genes
- MUTYH TOE1
- Associated Variants
-
MUTYH c.-127C>T, TOE1 c.52+77G>A, ENSG00000288208 c.541-5870C>T
(
ENST00000372090.6,
ENST00000372110.7,
ENST00000710952.2,
ENST00000529892.6,
ENST00000372098.7,
ENST00000672818.3,
ENST00000372115.7,
ENST00000529984.5 )
MUTYH c.-127C>T, TOE1 c.52+77G>A, ENSG00000288208 c.541-5870C>T ( ENST00000372098.7, ENST00000372110.7, ENST00000372115.7, ENST00000529892.6, ENST00000529984.5, ENST00000672818.3, ENST00000710952.2, ENST00000372090.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_025077.4(TOE1):c.52+77G>A AND not provided
- ClinVar Allele ID
- 419304
- ClinVar RefSeq Alternation Syntax
- NM_001407073.1:c.-127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001350651.2:c.-376C>T
- ClinVar RefSeq Alternation Syntax
- NM_001128425.2:c.-127C>T
- ClinVar RefSeq Alternation Syntax
- NR_176269.1:n.60C>T
- ClinVar RefSeq Alternation Syntax
- NR_176274.1:n.60C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407070.1:c.-185C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407071.1:c.-185C>T
- ClinVar RefSeq Alternation Syntax
- NM_012222.3:c.-127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293190.2:c.-127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001048171.2:c.-169C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407069.1:c.-127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407072.1:c.-165C>T
- ClinVar RefSeq Alternation Syntax
- NM_025077.4:c.52+77G>A
- ClinVar RefSeq Alternation Syntax
- NR_146882.2:n.60C>T
- ClinVar RefSeq Alternation Syntax
- NM_001350650.2:c.-440C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293192.2:c.-381C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000504244
- ClinVar Disease
- not provided
- Observed Origin Sample
- unknown
Drugs