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MTHFR c.586G>A ;(p.G196S)
Variant ID: 1-11860269-C-T
NM_005957.4(
MTHFR
):c.586G>A;(p.G196S)
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:
A Targeted, Next-Generation Genetic Sequencing Study on Tetralogy of Fallot, Combined With Cleft Lip and Palate.
The Journal Of Craniofacial Surgery
Liu, Lin L; Bu, Haisong H; Yang, Yifeng Y; Tan, Zhiping Z; Zhang, Fei F; Hu, Shijun S; Zhao, Tianli T
Publication Date: 2017-06
Variant appearance in text: MTHFR: G196S
PubMed Link:
28230599
Variant Present in the following documents:
Main text
jcrsu-28-e351.pdf
View BVdb publication page