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FBN1 c.119G>A ;(p.S40N)
Variant ID: 15-48936848-C-T
NM_000138.4(
FBN1
):c.119G>A;(p.S40N)
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 Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.
Journal Of Personalized Medicine
Hong, Syuan-Yu SY; Yang, Jiann-Jou JJ; Li, Shuan-Yow SY; Lee, Inn-Chi IC
Publication Date: 2020-12-15
Variant appearance in text: FBN1: 119G>A
PubMed Link:
33333793
Variant Present in the following documents:
Main text
jpm-10-00281.pdf
View BVdb publication page