Bibliome.ai browser hg19
Search
About
Stats
FAQ
MTHFR c.197C>T ;(p.P66L)
Variant ID: 1-11862977-G-A
NM_005957.4(
MTHFR
):c.197C>T;(p.P66L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: P66L
PubMed Link:
35008593
Variant Present in the following documents:
Main text
ijms-23-00167.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: P66L
PubMed Link:
35008593
Variant Present in the following documents:
Main text
ijms-23-00167.pdf
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: 197C>T; Pro66Leu
PubMed Link:
31068897
Variant Present in the following documents:
Main text
fneur-10-00411.pdf
View BVdb publication page