Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Glu23Lys (p.E23K)
(
ENST00000231790.8,
ENST00000450420.6,
ENST00000456676.7,
ENST00000536378.5,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673715.1,
ENST00000673899.1,
ENST00000713802.1 )
MLH1 p.Glu23Lys (p.E23K) ( ENST00000231790.8, ENST00000450420.6, ENST00000456676.7, ENST00000536378.5, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000713802.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000249.4(MLH1):c.67G>A (p.Glu23Lys) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 95804
- ClinVar RefSeq Alternation Syntax
- NM_001354615.2:c.-560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354622.2:c.-1090G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354616.2:c.-560G>A
- ClinVar RefSeq Alternation Syntax
- NM_001167618.3:c.-879G>A
- ClinVar RefSeq Alternation Syntax
- NM_001167619.3:c.-792G>A
- ClinVar RefSeq Alternation Syntax
- NM_001167617.3:c.-450G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354621.2:c.-977G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354626.2:c.-755G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354623.2:c.-999G>A
- ClinVar RefSeq Alternation Syntax
- NM_000249.4:c.67G>A
- ClinVar RefSeq Alternation Syntax
- NM_001258274.3:c.-1029G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354627.2:c.-987G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354617.2:c.-652G>A
- ClinVar RefSeq Alternation Syntax
- NM_001258271.2:c.67G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354619.2:c.-1008G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354628.2:c.67G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354618.2:c.-884G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354624.2:c.-760G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354630.2:c.67G>A
- ClinVar RefSeq Alternation Syntax
- NM_001258273.2:c.-566G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354620.2:c.-218G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354625.2:c.-658G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354629.2:c.67G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-12-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004019105
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs