CYBB c.617G>A ;(p.W206*)

Variant ID: X-37655337-G-A

NM_000397.3(CYBB):c.617G>A;(p.W206*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Clinical And Experimental Immunology
Dasouki, M M; Jabr, A A; AlDakheel, G G; Elbadaoui, F F; Alazami, A M AM; Al-Saud, B B; Arnaout, R R; Aldhekri, H H; Alotaibi, I I; Al-Mousa, H H; Hawwari, A A
Publication Date: 2020-10

Variant appearance in text: CYBB: W206X
PubMed Link: 32691468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
,
Publication Date: 2015-06-26

Variant appearance in text: CYBB: W206X
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM1_ESM.xls, sheet 1
View BVdb publication page