RET c.593C>G ;(p.P198R)

Variant ID: 10-43598045-C-G

NM_020975.4(RET):c.593C>G;(p.P198R)

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:

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

American Journal Of Human Genetics
Astuti, D D; Latif, F F; Dallol, A A; Dahia, P L PL; Douglas, F F; George, E E; Sköldberg, F F; Husebye, E S ES; Eng, C C; Maher, E R ER
Publication Date: 2001-07

Variant appearance in text: RET: P198R
PubMed Link: 11404820
Variant Present in the following documents:
  • Main text
View BVdb publication page