Details for COL6A3:c.9349G>A, p.Asp3117Asn

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
238234347237325704
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL6A3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004369.3
CDNA CHANGE c.9349G>A
PROTEIN CHANGE p.Asp3117Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.48779Disease causing
DBSNP ID rs1226664855
1 combination linked to COL6A3:c.9349G>A, p.Asp3117Asn OLI134
1 disease linked to COL6A3:c.9349G>A, p.Asp3117Asn Bethlem myopathy
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