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MTHFR c.1141T>C ;(p.W381R)
Variant ID: 1-11854811-A-G
NM_005957.4(
MTHFR
):c.1141T>C;(p.W381R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.
Annals Of Indian Academy Of Neurology
Padmanabha, Hansashree H; Mahale, Rohan R; Christopher, Rita R; Arunachal, Gautham G; Bhat, Maya M; Mondal, Mahammad Samim MS; Anjanappa, Ram Murthy RM; Mundlamuri, Ravindranadh Chowdhary RC; Yadav, Ravi R; Vengalil, Seena S; Mailankody, Pooja P; Mathuranath, Pavagada S PS; Chandra, Sadanandavalli R SR; Nalini, Atchayaram A
Publication Date: 2021
Variant appearance in text: MTHFR: W381R
PubMed Link:
35359558
Variant Present in the following documents:
AIAN-24-908.pdf
View BVdb publication page
A Glance into MTHFR Deficiency at a Molecular Level.
International Journal Of Molecular Sciences
Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R
Publication Date: 2021-12-23
Variant appearance in text: MTHFR: W381R
PubMed Link:
35008593
Variant Present in the following documents:
Main text
View BVdb publication page
A Glance into MTHFR Deficiency at a Molecular Level.
International Journal Of Molecular Sciences
Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R
Publication Date: 2021-12-23
Variant appearance in text: MTHFR: W381R
PubMed Link:
35008593
Variant Present in the following documents:
Main text
View BVdb publication page
A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.
Frontiers In Neurology
Massadeh, Salam S; Umair, Muhammad M; Alaamery, Manal M; Alfadhel, Majid M
Publication Date: 2019
Variant appearance in text: MTHFR: 1141T>C; Trp381Arg
PubMed Link:
31068897
Variant Present in the following documents:
Main text
fneur-10-00411.pdf
View BVdb publication page