Details for COL6A3:c.367G>A, p.Val123Met

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
238296552237387909
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE COL6A3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_057167
CDNA CHANGE c.367G>A
PROTEIN CHANGE p.Val123Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.982e-066.164e-050.00.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.365773Disease causing
DBSNP ID rs542283928
2 combinations linked to COL6A3:c.367G>A, p.Val123Met OLI794; OLI795
1 disease linked to COL6A3:c.367G>A, p.Val123Met Arthrogryposis syndrome
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