Details for NEXN:c.995A>C, p.Glu332Ala

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
7839513177929446
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NEXN
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_144573.3
CDNA CHANGE c.995A>C
PROTEIN CHANGE p.Glu332Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00320.00.00140.00.0020.0133

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0042660.000970.0016220.0029860.00022310.0076080.0031320.003980.0135

ESP
AAEA
0.0010780.002443
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.121607Polymorphism
DBSNP ID rs201763096
1 combination linked to NEXN:c.995A>C, p.Glu332Ala OLI237
1 disease linked to NEXN:c.995A>C, p.Glu332Ala Hypertrophic cardiomyopathy
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