Details for COL9A3:c.736C>T, p.Arg246Trp

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
6145760762826255
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL9A3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001853.4
CDNA CHANGE c.736C>T
PROTEIN CHANGE p.Arg246Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.67e-050.08.041e-050.00.00.03.554e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.07589Polymorphism
DBSNP ID NA
1 combination linked to COL9A3:c.736C>T, p.Arg246Trp OLI1689
1 disease linked to COL9A3:c.736C>T, p.Arg246Trp Non-Syndromic genetic keratoconus

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