Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Ala263Val (p.A263V)
(
ENST00000376585.6,
ENST00000376583.7,
ENST00000376590.9,
ENST00000376592.6,
ENST00000423400.7,
ENST00000641407.1,
ENST00000641820.1 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- Neural tube defects, folate-sensitive
- Source Database
- ClinVar
- Description
- NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND Neural tube defects, folate-sensitive
- ClinVar Allele ID
- 18559
- ClinVar RefSeq Alternation Syntax
- NM_001330358.2:c.788C>T
- ClinVar RefSeq Alternation Syntax
- NM_005957.5:c.665C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-05-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000259890
- ClinVar Disease
- Neural tube defects, folate-sensitive
- Observed Origin Sample
- unknown
Drugs