Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Asn38His (p.N38H)
(
ENST00000231790.8,
ENST00000450420.6,
ENST00000456676.7,
ENST00000536378.5,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673715.1,
ENST00000673899.1,
ENST00000713802.1 )
MLH1 p.Asn38His (p.N38H) ( ENST00000231790.8, ENST00000450420.6, ENST00000456676.7, ENST00000536378.5, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000713802.1 ) - Associated Disease
- Lynch syndrome 1
- Source Database
- ClinVar
- Description
- NM_000249.4(MLH1):c.112A>C (p.Asn38His) AND Lynch syndrome 1
- ClinVar Allele ID
- 95119
- ClinVar RefSeq Alternation Syntax
- NM_001258274.3:c.-984A>C
- ClinVar RefSeq Alternation Syntax
- NM_000249.4:c.112A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354627.2:c.-942A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354628.2:c.112A>C
- ClinVar RefSeq Alternation Syntax
- NM_001167617.3:c.-405A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354622.2:c.-1045A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354630.2:c.112A>C
- ClinVar RefSeq Alternation Syntax
- NM_001167619.3:c.-747A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354616.2:c.-515A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354615.2:c.-515A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354624.2:c.-715A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354623.2:c.-954A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354618.2:c.-839A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354626.2:c.-710A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354621.2:c.-932A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354620.2:c.-173A>C
- ClinVar RefSeq Alternation Syntax
- NM_001258273.2:c.-521A>C
- ClinVar RefSeq Alternation Syntax
- NM_001167618.3:c.-834A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354619.2:c.-963A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354617.2:c.-607A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354625.2:c.-613A>C
- ClinVar RefSeq Alternation Syntax
- NM_001354629.2:c.112A>C
- ClinVar RefSeq Alternation Syntax
- NM_001258271.2:c.112A>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001804811
- ClinVar Disease
- Lynch syndrome 1
- Observed Origin Sample
- germline
Drugs