Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Ala29Ser (p.A29S)
(
ENST00000231790.8,
ENST00000450420.6,
ENST00000456676.7,
ENST00000536378.5,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673715.1,
ENST00000673899.1,
ENST00000713802.1 )
MLH1 p.Ala29Ser (p.A29S) ( ENST00000231790.8, ENST00000450420.6, ENST00000456676.7, ENST00000536378.5, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000713802.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000249.4(MLH1):c.85G>T (p.Ala29Ser) AND not provided
- ClinVar Allele ID
- 95871
- ClinVar RefSeq Alternation Syntax
- NM_001354624.2:c.-742G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354626.2:c.-737G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354623.2:c.-981G>T
- ClinVar RefSeq Alternation Syntax
- NM_001258273.2:c.-548G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354618.2:c.-866G>T
- ClinVar RefSeq Alternation Syntax
- NM_001258271.2:c.85G>T
- ClinVar RefSeq Alternation Syntax
- NM_001258274.3:c.-1011G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354615.2:c.-542G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354630.2:c.85G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354629.2:c.85G>T
- ClinVar RefSeq Alternation Syntax
- NM_001167619.3:c.-774G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354628.2:c.85G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354620.2:c.-200G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354616.2:c.-542G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354625.2:c.-640G>T
- ClinVar RefSeq Alternation Syntax
- NM_001167617.3:c.-432G>T
- ClinVar RefSeq Alternation Syntax
- NM_001167618.3:c.-861G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354622.2:c.-1072G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354621.2:c.-959G>T
- ClinVar RefSeq Alternation Syntax
- NM_000249.4:c.85G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354619.2:c.-990G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354627.2:c.-969G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354617.2:c.-634G>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2020-11-05
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000767178
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs