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chr19:1218493 A>G

Annotations

GeneSTK11
TranscriptNM_000455.4
cDNAc.368A>G
Proteinp.Q123R
Functionmissense
Localizationexon
hg19chr19:1218493 A>G

Frequency in gnomAD

GenomeExome
MAX0.000066690
AFR00
AMR00
ASJ00
EAS00
FIN0.00030.0001
NFE0.000066690
SAS0

ClinVar

IDPhenotypeEffect
RCV000420556.1Squamous cell lung carcinomaLikely pathogenic