Annotation Detail

Information

Associated Genes: MTHFR
Associated Variants: MTHFR p.Glu470Ala (p.E470A) ( ENST00000376590.9, ENST00000641407.1, ENST00000376592.6, ENST00000376585.6, ENST00000376583.7, ENST00000641820.1, ENST00000423400.7 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
Associated Disease: MTHFR THERMOLABILE POLYMORPHISM
Source Database: ClinVar
Description: NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) AND MTHFR THERMOLABILE POLYMORPHISM
ClinVar Allele ID: 18560
ClinVar RefSeq Alternation Syntax: NM_005957.5:c.1286A>C
ClinVar RefSeq Alternation Syntax: NM_001330358.2:c.1409A>C
Clinical Significance Description: Benign
Clinical Significance Last Update: 2008-07-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000003698
ClinVar Disease: MTHFR THERMOLABILE POLYMORPHISM
Observed Origin Sample: germline
Pubmed: 11752418
Pubmed: 18583979
Pubmed: 11938441
Pubmed: 15951337
Pubmed: 11742092
Pubmed: 15103709
Pubmed: 15543147
Pubmed: 11590551
Pubmed: 10677336
Pubmed: 12560871
Pubmed: 16244782
Pubmed: 10958762
Pubmed: 9545395

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