TYR c.1231T>C ;(p.Y411H)

Variant ID: 11-89017987-T-C

NM_000372.4(TYR):c.1231T>C;(p.Y411H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes
Ullah, Muhammad Ikram MI
Publication Date: 2022-06-16

Variant appearance in text: TYR: 1231T>C
PubMed Link: 35741834
Variant Present in the following documents:
  • genes-13-01072.pdf
View BVdb publication page



Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.

Eye (London, England)
Shakil, Muhammad M; Harlalka, Gaurav V GV; Ali, Shamshad S; Lin, Siying S; D'Atri, Ilaria I; Hussain, Shabbir S; Nasir, Abdul A; Shahzad, Muhammad Aiman MA; Ullah, Muhammad Ikram MI; Self, Jay E JE; Baple, Emma L EL; Crosby, Andrew H AH; Mahmood, Saqib S
Publication Date: 2019-08

Variant appearance in text: TYR: 1231T>C
PubMed Link: 30996339
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Scientific Reports
Shahzad, Mohsin M; Yousaf, Sairah S; Waryah, Yar M YM; Gul, Hadia H; Kausar, Tasleem T; Tariq, Nabeela N; Mahmood, Umair U; Ali, Muhammad M; Khan, Muzammil A MA; Waryah, Ali M AM; Shaikh, Rehan S RS; Riazuddin, Saima S; Ahmed, Zubair M ZM; ,
Publication Date: 2017-03-07

Variant appearance in text: TYR: 1231T>C
PubMed Link: 28266639
Variant Present in the following documents:
  • srep44185-s1.pdf
View BVdb publication page



Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

Orphanet Journal Of Rare Diseases
Jaworek, Thomas J TJ; Kausar, Tasleem T; Bell, Shannon M SM; Tariq, Nabeela N; Maqsood, Muhammad Imran MI; Sohail, Asma A; Ali, Muhmmmad M; Iqbal, Furhan F; Rasool, Shafqat S; Riazuddin, Saima S; Shaikh, Rehan S RS; Ahmed, Zubair M ZM
Publication Date: 2012-06-26

Variant appearance in text: TYR: 1231T>C
PubMed Link: 22734612
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-44.pdf
View BVdb publication page