MYBPC3 c.3794A>T ;(p.E1265V)

Variant ID: 11-47353643-T-A

NM_000256.3(MYBPC3):c.3794A>T;(p.E1265V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.

Life (Basel, Switzerland)
Karim, Sajjad S; Saharti, Samah S; Alganmi, Nofe N; Mirza, Zeenat Z; Alfares, Ahmed A; Turkistany, Shereen S; Al-Attas, Manal M; Noureldin, Hend H; Al Sakkaf, Khadega K; Abusamra, Heba H; Al-Qahtani, Mohammed M; Abuzenadah, Adel A
Publication Date: 2021-12-23

Variant appearance in text: MYBPC3: Glu1265Val
PubMed Link: 35054407
Variant Present in the following documents:
  • Main text
  • life-12-00014.pdf
View BVdb publication page



Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.

Life (Basel, Switzerland)
Karim, Sajjad S; Saharti, Samah S; Alganmi, Nofe N; Mirza, Zeenat Z; Alfares, Ahmed A; Turkistany, Shereen S; Al-Attas, Manal M; Noureldin, Hend H; Al Sakkaf, Khadega K; Abusamra, Heba H; Al-Qahtani, Mohammed M; Abuzenadah, Adel A
Publication Date: 2021-12-23

Variant appearance in text: MYBPC3: Glu1265Val
PubMed Link: 35054407
Variant Present in the following documents:
  • Main text
  • life-12-00014.pdf
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: MYBPC3: 3794A>T; E1265V
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

European Journal Of Human Genetics : Ejhg
Wessels, Marja W MW; Herkert, Johanna C JC; Frohn-Mulder, Ingrid M IM; Dalinghaus, Michiel M; van den Wijngaard, Arthur A; de Krijger, Ronald R RR; Michels, Michelle M; de Coo, Irenaeus Fm IF; Hoedemaekers, Yvonne M YM; Dooijes, Dennis D
Publication Date: 2015-07

Variant appearance in text: MYBPC3: 3794A>T; Glu1265Val
PubMed Link: 25335496
Variant Present in the following documents:
  • Main text
View BVdb publication page