Details for LAMA4:c.3925G>A, p.Asp1309Asn

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
112452213112131011
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE LAMA4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001105206.2
CDNA CHANGE c.3925G>A
PROTEIN CHANGE p.Asp1309Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.456185Disease causing
DBSNP ID NA
1 combination linked to LAMA4:c.3925G>A, p.Asp1309Asn OLI068
1 disease linked to LAMA4:c.3925G>A, p.Asp1309Asn Dilated cardiomyopathy
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