ACVRL1 c.1297C>T ;(p.P433S)

Variant ID: 12-52312819-C-T

NM_000020.2(ACVRL1):c.1297C>T;(p.P433S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy.

Scientific Reports
Alhamoudi, Kheloud M KM; Barhoumi, Tlili T; Al-Eidi, Hamad H; Asiri, Abdulaziz A; Nashabat, Marwan M; Alaamery, Manal M; Alharbi, Masheal M; Alhaidan, Yazeid Y; Tabarki, Brahim B; Umair, Muhammad M; Alfadhel, Majid M
Publication Date: 2021-06-18

Variant appearance in text: HHT2: P433S
PubMed Link: 34145321
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_92026.pdf
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Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients

Balkan Medical Journal
Baysal, Mehmet M; Demir, Selma S; Ümit, Elif G. EG; Gürkan, Hakan H; Baş, Volkan V; Karaman Gülsaran, Sedanur S; Demirci, Ufuk U; Kırkızlar, Hakkı Onur HO; Demir, Ahmet Muzaffer AM
Publication Date: 2019-12-20

Variant appearance in text: ACVRL1: 1297C>T
PubMed Link: 31594285
Variant Present in the following documents:
  • Main text
  • BMJ-37-43.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: ACVRL1: P433S
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.

Orphanet Journal Of Rare Diseases
Lux, Andreas A; Müller, Ralf R; Tulk, Mark M; Olivieri, Carla C; Zarrabeita, Roberto R; Salonikios, Theresia T; Wirnitzer, Bernhard B
Publication Date: 2013-06-27

Variant appearance in text: HHT: 1297C>T
PubMed Link: 23805858
Variant Present in the following documents:
  • Main text
  • 1750-1172-8-94.pdf
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Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics
Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M
Publication Date: 2006-09

Variant appearance in text: ACVRL1: P433S
PubMed Link: 16690726
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02

Variant appearance in text:
PubMed Link: 15879500
Variant Present in the following documents:
  • Main text
View BVdb publication page