FBN1 c.2132G>A ;(p.C711Y)

Variant ID: 15-48791217-C-T

NM_000138.4(FBN1):c.2132G>A;(p.C711Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.

Human Molecular Genetics
Burger, Joyce J; Bogunovic, Natalija N; de Wagenaar, Nathalie P NP; Liu, Hui H; van Vliet, Nicole N; IJpma, Arne A; Maugeri, Alessandra A; Micha, Dimitra D; Verhagen, Hence J M HJM; Ten Hagen, Timo L M TLM; Majoor-Krakauer, Danielle D; van der Pluijm, Ingrid I; Essers, Jeroen J; Yeung, Kak K KK
Publication Date: 2021-11-16

Variant appearance in text: FBN1: C711Y
PubMed Link: 34244757
Variant Present in the following documents:
  • Main text
  • ddab190.pdf
View BVdb publication page



The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Human Genetics
Monies, Dorota D; Abouelhoda, Mohamed M; AlSayed, Moeenaldeen M; Alhassnan, Zuhair Z; Alotaibi, Maha M; Kayyali, Husam H; Al-Owain, Mohammed M; Shah, Ayaz A; Rahbeeni, Zuhair Z; Al-Muhaizea, Mohammad A MA; Alzaidan, Hamad I HI; Cupler, Edward E; Bohlega, Saeed S; Faqeih, Eissa E; Faden, Maha M; Alyounes, Banan B; Jaroudi, Dyala D; Goljan, Ewa E; Elbardisy, Hadeel H; Akilan, Asma A; Albar, Renad R; Aldhalaan, Hesham H; Gulab, Shamshad S; Chedrawi, Aziza A; Al Saud, Bandar K BK; Kurdi, Wesam W; Makhseed, Nawal N; Alqasim, Tahani T; El Khashab, Heba Y HY; Al-Mousa, Hamoud H; Alhashem, Amal A; Kanaan, Imaduddin I; Algoufi, Talal T; Alsaleem, Khalid K; Basha, Talal A TA; Al-Murshedi, Fathiya F; Khan, Sameena S; Al-Kindy, Adila A; Alnemer, Maha M; Al-Hajjar, Sami S; Alyamani, Suad S; Aldhekri, Hasan H; Al-Mehaidib, Ali A; Arnaout, Rand R; Dabbagh, Omar O; Shagrani, Mohammad M; Broering, Dieter D; Tulbah, Maha M; Alqassmi, Amal A; Almugbel, Maisoon M; AlQuaiz, Mohammed M; Alsaman, Abdulaziz A; Al-Thihli, Khalid K; Sulaiman, Raashda A RA; Al-Dekhail, Wajeeh W; Alsaegh, Abeer A; Bashiri, Fahad A FA; Qari, Alya A; Alhomadi, Suzan S; Alkuraya, Hisham H; Alsebayel, Mohammed M; Hamad, Muddathir H MH; Szonyi, Laszlo L; Abaalkhail, Faisal F; Al-Mayouf, Sulaiman M SM; Almojalli, Hamad H; Alqadi, Khalid S KS; Elsiesy, Hussien H; Shuaib, Taghreed M TM; Seidahmed, Mohammed Zain MZ; Abosoudah, Ibraheem I; Akleh, Hana H; AlGhonaium, Abdulaziz A; Alkharfy, Turki M TM; Al Mutairi, Fuad F; Eyaid, Wafa W; Alshanbary, Abdullah A; Sheikh, Farrukh R FR; Alsohaibani, Fahad I FI; Alsonbul, Abdullah A; Al Tala, Saeed S; Balkhy, Soher S; Bassiouni, Randa R; Alenizi, Ahmed S AS; Hussein, Maged H MH; Hassan, Saeed S; Khalil, Mohamed M; Tabarki, Brahim B; Alshahwan, Saad S; Oshi, Amira A; Sabr, Yasser Y; Alsaadoun, Saad S; Salih, Mustafa A MA; Mohamed, Sarar S; Sultana, Habiba H; Tamim, Abdullah A; El-Haj, Moayad M; Alshahrani, Saif S; Bubshait, Dalal K DK; Alfadhel, Majid M; Faquih, Tariq T; El-Kalioby, Mohamed M; Subhani, Shazia S; Shah, Zeeshan Z; Moghrabi, Nabil N; Meyer, Brian F BF; Alkuraya, Fowzan S FS
Publication Date: 2017-08

Variant appearance in text: FBN1: 2132G>A; C711Y
PubMed Link: 28600779
Variant Present in the following documents:
  • 439_2017_1821_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.

Molecular Vision
Dong, Jiamei J; Bu, Juan J; Du, Wei W; Li, Yuan Y; Jia, Yanlei Y; Li, Jianchang J; Meng, Xiaoli X; Yuan, Minghui M; Peng, Xiaojuan X; Zhou, Aimin A; Wang, Lejin L
Publication Date: 2012

Variant appearance in text: FBN1: C711Y
PubMed Link: 22262941
Variant Present in the following documents:
  • Main text
  • mv-v18-81.pdf
View BVdb publication page