TTN c.97760G>A ;(p.R32587H)

Variant ID: 2-179406044-C-T

NM_001267550.1(TTN):c.97760G>A;(p.R32587H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: TTN: R32587H; rs55704830
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.

Molecular Genetics & Genomic Medicine
Badura-Stronka, Magdalena M; Śmigiel, Robert R; Rutkowska, Karolina K; Szymańska, Krystyna K; Hirschfeld, Adam Sebastian AS; Monkiewicz, Michał M; Kosińska, Joanna J; Wolańska, Ewelina E; Rydzanicz, Małgorzata M; Latos-Bieleńska, Anna A; Płoski, Rafał R
Publication Date: 2022-04

Variant appearance in text: TTN: 97760G>A; R32587H
PubMed Link: 35255187
Variant Present in the following documents:
  • MGG3-10-e1899-s002.xlsx, sheet 1
View BVdb publication page



The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Npj Genomic Medicine
Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M
Publication Date: 2020

Variant appearance in text: TTN: 97760G>A; Arg32587His
PubMed Link: 33110626
Variant Present in the following documents:
  • 41525_2020_153_MOESM1_ESM.pdf
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: TTN: R32587H; rs55704830
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 9
  • NIHMS753666-supplement-2.xlsx, sheet 8
View BVdb publication page