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: MTHFR THERMOLABILE POLYMORPHISM
Source Database: ClinVar
Description: NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) AND MTHFR THERMOLABILE POLYMORPHISM
Pubmed: 11807890
Pubmed: 17350979
Pubmed: 8826441
Pubmed: 16800002
Pubmed: 12383688
Pubmed: 10732818
Pubmed: 15103709
Pubmed: 16172608
Pubmed: 9843036
Pubmed: 10440833
Pubmed: 11888585
Pubmed: 9244205
Pubmed: 9453374
Pubmed: 8616944
Pubmed: 17898028
Pubmed: 10323741
Pubmed: 9789068
Pubmed: 8892013
Pubmed: 9341863
Pubmed: 12387655
Pubmed: 9192280
Pubmed: 8554066
Pubmed: 15534175
Pubmed: 18583979
Pubmed: 16365871
Pubmed: 15173232
Pubmed: 8903338
Pubmed: 15704130
Pubmed: 9372726
Pubmed: 11929966
Pubmed: 9545406
Pubmed: 12356947
Pubmed: 20154341
Pubmed: 9133512
Pubmed: 17284634
Pubmed: 12095808
Pubmed: 11121176
Pubmed: 12080391
Pubmed: 8837319
Pubmed: 7647779
Pubmed: 15729744
Pubmed: 12796225
Pubmed: 1522835
Pubmed: 9798595
Pubmed: 11781870
Pubmed: 15806605
Pubmed: 11140843
Pubmed: 16470725
Pubmed: 17543893
Pubmed: 17436239
Pubmed: 12428084
Pubmed: 12560871
Pubmed: 17726486
Pubmed: 12406076
Pubmed: 12221667
Pubmed: 10869114
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: Conflicting interpretations of pathogenicity
Clinical Significance Last Update: 2023-09-29
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000003697
ClinVar Disease: MTHFR THERMOLABILE POLYMORPHISM
Observed Origin Sample: germline
Pubmed: 8771990
Pubmed: 15054400
Pubmed: 9737770
Pubmed: 12384649
Pubmed: 16712703
Pubmed: 12400059
Pubmed: 11863127
Pubmed: 8981967
Pubmed: 12154064
Pubmed: 8542260
Pubmed: 15154859
Pubmed: 10196703
Pubmed: 10930360
Pubmed: 7741859
Pubmed: 9863598
Pubmed: 16402130
Pubmed: 12165282
Pubmed: 12196644
Pubmed: 7564788
Pubmed: 8554053
Pubmed: 15565101
Pubmed: 8994411
Pubmed: 15808177
Pubmed: 12529699

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