Details for COL6A3:c.4156G>A, p.Glu1386Lys

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
238280504237371861
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL6A3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004369.3
CDNA CHANGE c.4156G>A
PROTEIN CHANGE p.Glu1386Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00180.00.00.00.0080.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0062270.00049220.0020520.0070450.00.030610.0060170.0089630.0007512

ESP
AAEA
0.00090790.004884
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.057731Polymorphism
DBSNP ID rs146092501
1 combination linked to COL6A3:c.4156G>A, p.Glu1386Lys OLI570
1 disease linked to COL6A3:c.4156G>A, p.Glu1386Lys Limb-girdle muscular dystrophy
Found any issues with the data on this page? Report this entry.