Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR c.359+160T>C ( ENST00000376583.7, ENST00000423400.7, ENST00000376585.6, ENST00000641407.1, ENST00000376592.6, ENST00000376590.9 )
MTHFR c.359+160T>C ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_005957.5(MTHFR):c.236+160T>C AND not provided
ClinVar Allele ID
1226228
ClinVar RefSeq Alternation Syntax
NM_001330358.2:c.359+160T>C
ClinVar RefSeq Alternation Syntax
NM_005957.5:c.236+160T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-07-27
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001635596
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs