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FBN1 c.6517G>A ;(p.G2173S)
Variant ID: 15-48726890-C-T
NM_000138.4(
FBN1
):c.6517G>A;(p.G2173S)
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:
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04
Variant appearance in text: FBN1: Gly2173Ser
PubMed Link:
35246273
Variant Present in the following documents:
40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page