Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Met35Asn (p.M35N)
(
ENST00000231790.8,
ENST00000450420.6,
ENST00000456676.7,
ENST00000536378.5,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673715.1,
ENST00000673899.1,
ENST00000713802.1 )
MLH1 p.Met35Asn (p.M35N) ( ENST00000231790.8, ENST00000450420.6, ENST00000456676.7, ENST00000536378.5, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000713802.1 ) - Associated Disease
- Colorectal cancer, hereditary nonpolyposis, type 2
- Source Database
- ClinVar
- Description
- NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn) AND Colorectal cancer, hereditary nonpolyposis, type 2
- ClinVar Allele ID
- 32144
- ClinVar RefSeq Alternation Syntax
- NM_001354615.2:c.-523_-522delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354624.2:c.-723_-722delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_000249.4:c.104_105delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354627.2:c.-950_-949delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354622.2:c.-1053_-1052delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354617.2:c.-615_-614delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001167617.3:c.-413_-412delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001258273.2:c.-529_-528delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354619.2:c.-971_-970delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001167618.3:c.-842_-841delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354616.2:c.-523_-522delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354628.2:c.104_105delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354625.2:c.-621_-620delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001258271.2:c.104_105delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354630.2:c.104_105delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001167619.3:c.-755_-754delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354620.2:c.-181_-180delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354621.2:c.-940_-939delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001258274.3:c.-992_-991delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354618.2:c.-847_-846delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354626.2:c.-718_-717delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354623.2:c.-962_-961delinsAC
- ClinVar RefSeq Alternation Syntax
- NM_001354629.2:c.104_105delinsAC
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018640
- ClinVar Disease
- Colorectal cancer, hereditary nonpolyposis, type 2
- Observed Origin Sample
- germline
- Pubmed
- 17440981
Drugs