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MTHFR c.797G>A ;(p.R266Q)
Variant ID: 1-11855389-C-T
NM_005957.4(
MTHFR
):c.797G>A;(p.R266Q)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.
Circulation. Genomic And Precision Medicine
Carss, Keren J KJ; Baranowska, Anna A AA; Armisen, Javier J; Webb, Tom R TR; Hamby, Stephen E SE; Premawardhana, Diluka D; Al-Hussaini, Abtehale A; Wood, Alice A; Wang, Quanli Q; Deevi, Sri V V SVV; Vitsios, Dimitrios D; Lewis, Samuel H SH; Kotecha, Deevia D; Bouatia-Naji, Nabila N; Hesselson, Stephanie S; Iismaa, Siiri E SE; Tarr, Ingrid I; McGrath-Cadell, Lucy L; Muller, David W DW; Dunwoodie, Sally L SL; Fatkin, Diane D; Graham, Robert M RM; Giannoulatou, Eleni E; Samani, Nilesh J NJ; Petrovski, Slavé S; Haefliger, Carolina C; Adlam, David D
Publication Date: 2020-12
Variant appearance in text: MTHFR: 797G>A; Arg266Gln
PubMed Link:
33125268
Variant Present in the following documents:
hcg-13-e003030-s001.pdf
View BVdb publication page