Details for PTK7:c.1925C>G, p.Pro642Arg

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
4311120043143462
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE PTK7
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_152882
CDNA CHANGE c.1925C>G
PROTEIN CHANGE p.Pro642Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00.00.0060.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00039850.00024610.00017359.923e-050.002124.63e-050.00022950.00032620.0006859

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.762673Disease causing
DBSNP ID rs148120569
1 combination linked to PTK7:c.1925C>G, p.Pro642Arg OLI509
1 disease linked to PTK7:c.1925C>G, p.Pro642Arg Isolated spina bifida
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