Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Glu13Lys (p.E13K)
(
ENST00000456676.7,
ENST00000536378.5,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673715.1,
ENST00000673899.1,
ENST00000713802.1,
ENST00000231790.8,
ENST00000450420.6 )
MLH1 p.Glu13Lys (p.E13K) ( ENST00000616768.6, ENST00000231790.8, ENST00000450420.6, ENST00000456676.7, ENST00000536378.5, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000713802.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) AND Hereditary cancer-predisposing syndrome
- ClinVar RefSeq Alternation Syntax
- NM_001167618.3:c.-909G>A
- ClinVar Allele ID
- 190024
- ClinVar RefSeq Alternation Syntax
- NM_001354630.2:c.37G>A
- ClinVar RefSeq Alternation Syntax
- NM_000249.4:c.37G>A
- ClinVar RefSeq Alternation Syntax
- NM_001258274.3:c.-1059G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354627.2:c.-1017G>A
- ClinVar RefSeq Alternation Syntax
- NM_001167617.3:c.-480G>A
- ClinVar RefSeq Alternation Syntax
- NM_001167619.3:c.-822G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354615.2:c.-590G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354616.2:c.-590G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354619.2:c.-1038G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354628.2:c.37G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354620.2:c.-248G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354625.2:c.-688G>A
- ClinVar RefSeq Alternation Syntax
- NM_001258273.2:c.-596G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354618.2:c.-914G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354622.2:c.-1120G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354629.2:c.37G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354623.2:c.-1029G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354624.2:c.-790G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354626.2:c.-785G>A
- ClinVar RefSeq Alternation Syntax
- NM_001258271.2:c.37G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354617.2:c.-682G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354621.2:c.-1007G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000220749
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs