Details for NEXN:c.620A>G, p.Asp207Gly

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
7839222977926544
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NEXN
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_144573.3
CDNA CHANGE c.620A>G
PROTEIN CHANGE p.Asp207Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.809e-050.05.794e-050.00.00.03.54e-050.03.269e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.60502Polymorphism
DBSNP ID rs570946423
1 combination linked to NEXN:c.620A>G, p.Asp207Gly OLI234
1 disease linked to NEXN:c.620A>G, p.Asp207Gly Hypertrophic cardiomyopathy
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