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CYBB c.509_510inv ;(p.A170E)
Variant ID: X-37655229-CT-AG
NM_000397.3(
CYBB
):c.509_510inv;(p.A170E)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Systematic analysis of the intersection of disease mutations with protein modifications.
Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25
Variant appearance in text: CGD: A170E
PubMed Link:
31345222
Variant Present in the following documents:
12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page