Annotation Detail
Information
- Associated Genes
- DHFR MSH3
- Associated Variants
-
DHFR c.-473T>C, MSH3 p.Ile79Val (p.I79V)
(
ENST00000439211.7,
ENST00000265081.7,
ENST00000667069.1 )
DHFR c.-473T>C, MSH3 p.Ile79Val (p.I79V) ( ENST00000439211.7, ENST00000265081.7, ENST00000667069.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000791.4(DHFR):c.-473T>C AND not provided
- ClinVar Allele ID
- 389696
- ClinVar RefSeq Alternation Syntax
- NM_002439.5:c.235A>G
- ClinVar RefSeq Alternation Syntax
- NM_001290357.2:c.-473T>C
- ClinVar RefSeq Alternation Syntax
- NM_000791.4:c.-473T>C
- ClinVar RefSeq Alternation Syntax
- NM_001290354.2:c.-579T>C
- ClinVar RefSeq Alternation Syntax
- NR_110936.2:n.22T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001511632
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs