Details for COL6A3:c.7258C>T, p.Arg2420Trp

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
238253403237344760
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL6A3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_004369.3
CDNA CHANGE c.7258C>T
PROTEIN CHANGE p.Arg2420Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.00.0030.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00082186.319e-050.000480.00.00.0032680.0010330.00051413.438e-05

ESP
AAEA
0.00.0009302
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.889265Polymorphism
DBSNP ID rs150165484
1 combination linked to COL6A3:c.7258C>T, p.Arg2420Trp OLI570
1 disease linked to COL6A3:c.7258C>T, p.Arg2420Trp Limb-girdle muscular dystrophy
Found any issues with the data on this page? Report this entry.