Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR c.1755+2T>G
(
ENST00000376583.7,
ENST00000641820.1,
ENST00000423400.7,
ENST00000376585.6,
ENST00000376592.6,
ENST00000641407.1,
ENST00000376590.9 )
MTHFR c.1755+2T>G ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005957.5(MTHFR):c.1632+2T>G AND not provided
- ClinVar Allele ID
- 185766
- ClinVar RefSeq Alternation Syntax
- NM_001410750.1:c.1752+2T>G
- ClinVar RefSeq Alternation Syntax
- NM_005957.5:c.1632+2T>G
- ClinVar RefSeq Alternation Syntax
- NM_001330358.2:c.1755+2T>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-10-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001753577
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs