Details for COL2A1:c.203G>A, p.Arg68His

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
4839167347997890
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE COL2A1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_033150.3
CDNA CHANGE c.203G>A
PROTEIN CHANGE p.Arg68His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
7.965e-056.157e-050.00.00.04.619e-050.00010580.00065256.533e-05

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.975855None
DBSNP ID rs201675352
1 combination linked to COL2A1:c.203G>A, p.Arg68His OLI679
1 disease linked to COL2A1:c.203G>A, p.Arg68His Holoprosencephaly
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