Details for CIT:c.2651A>C, p.Gln884Pro

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
120189982119752177
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE CIT
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT NM_007174.2
CDNA CHANGE c.2651A>C
PROTEIN CHANGE p.Gln884Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.861211Disease causing
DBSNP ID rs1593597170
1 combination linked to CIT:c.2651A>C, p.Gln884Pro OLI793
1 disease linked to CIT:c.2651A>C, p.Gln884Pro Arthrogryposis syndrome
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