MYH3 c.1309T>A ;(p.F437I)

Variant ID: 17-10547769-A-T

NM_002470.3(MYH3):c.1309T>A;(p.F437I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

Npj Genomic Medicine
Zhao, Sen S; Zhang, Yuanqiang Y; Hallgrimsdottir, Sigrun S; Zuo, Yuzhi Y; Li, Xiaoxin X; Batkovskyte, Dominyka D; Liu, Sen S; Lindelöf, Hillevi H; Wang, Shengru S; Hammarsjö, Anna A; Yang, Yang Y; Ye, Yongyu Y; Wang, Lianlei L; Yan, Zihui Z; Lin, Jiachen J; Yu, Chenxi C; Chen, Zefu Z; Niu, Yuchen Y; Wang, Huizi H; Zhao, Zhi Z; Liu, Pengfei P; Qiu, Guixing G; Posey, Jennifer E JE; Wu, Zhihong Z; Lupski, James R JR; Micule, Ieva I; Anderlid, Britt-Marie BM; Voss, Ulrika U; Sulander, Dennis D; Kuchinskaya, Ekaterina E; Nordgren, Ann A; Nilsson, Ola O; , ; Zhang, Terry Jianguo TJ; Grigelioniene, Giedre G; Wu, Nan N
Publication Date: 2022-02-15

Variant appearance in text: MYH3: 1309T>A; Phe437Ile
PubMed Link: 35169139
Variant Present in the following documents:
  • 41525_2021_273_MOESM2_ESM.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: MYH3: 1309T>A; Phe437Ile; rs763091291
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Disease mutations in striated muscle myosins.

Biophysical Reviews
Parker, Francine F; Peckham, Michelle M
Publication Date: 2020-08

Variant appearance in text: MYH3: Phe437Ile
PubMed Link: 32651905
Variant Present in the following documents:
  • 12551_2020_721_MOESM1_ESM.pdf
View BVdb publication page



Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

American Journal Of Medical Genetics. Part A
Beck, Anita E AE; McMillin, Margaret J MJ; Gildersleeve, Heidi I S HI; Kezele, Phillip R PR; Shively, Kathryn M KM; Carey, John C JC; Regnier, Michael M; Bamshad, Michael J MJ
Publication Date: 2013-03

Variant appearance in text: MYH3: 1309T>A; F437I
PubMed Link: 23401156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.

The Journal Of Bone And Joint Surgery. American Volume
Alvarado, David M DM; Buchan, Jillian G JG; Gurnett, Christina A CA; Dobbs, Matthew B MB
Publication Date: 2011-06-01

Variant appearance in text: MYH3: F437I
PubMed Link: 21531865
Variant Present in the following documents:
  • Main text
View BVdb publication page