NF1 c.3831C>A ;(p.G1277=)

Variant ID: 17-29562751-C-A

NM_001042492.2(NF1):c.3831C>A;(p.G1277=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

American Journal Of Human Genetics
Fahsold, R R; Hoffmeyer, S S; Mischung, C C; Gille, C C; Ehlers, C C; Kücükceylan, N N; Abdel-Nour, M M; Gewies, A A; Peters, H H; Kaufmann, D D; Buske, A A; Tinschert, S S; Nürnberg, P P
Publication Date: 2000-03

Variant appearance in text: NF1: G1277G
PubMed Link: 10712197
Variant Present in the following documents:
  • Main text
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