TTN c.82468T>A ;(p.W27490R)

TTN c.82468T>A ;(p.W27490R)

Variant ID: 2-179428391-A-T

NM_001267550.1(TTN):c.82468T>A;(p.W27490R)

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: TTN: W27490R

PubMed Link: 35246273

Variant Present in the following documents:

40478_2022_1333_MOESM3_ESM.xlsx, sheet 1

40478_2022_1333_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page