F8 c.1801A>C ;(p.N601H)

Variant ID: X-154182269-T-G

NM_000132.3(F8):c.1801A>C;(p.N601H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII.

Scientific Reports
Wei, Wei W; Zheng, Chunlei C; Zhu, Min M; Zhu, Xiaofan X; Yang, Renchi R; Misra, Saurav S; Zhang, Bin B
Publication Date: 2017-03-22

Variant appearance in text: FVIII: 1801A>C
PubMed Link: 28327546
Variant Present in the following documents:
  • Main text
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