RB1 c.1449T>G ;(p.H483Q)

Variant ID: 13-48954328-T-G

NM_000321.2(RB1):c.1449T>G;(p.H483Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Human Genetics
Cygan, Kamil J KJ; Soemedi, Rachel R; Rhine, Christy L CL; Profeta, Abraham A; Murphy, Eileen L EL; Murray, Michael F MF; Fairbrother, William G WG
Publication Date: 2017-09

Variant appearance in text: RB1: 1449T>G
PubMed Link: 28780672
Variant Present in the following documents:
  • Main text
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