Details for RECQL4:c.3062G>A, p.Arg1021Gln

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
145737701144512318
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE RECQL4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004260.3
CDNA CHANGE c.3062G>A
PROTEIN CHANGE p.Arg1021Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00.00430.00.0030.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0040760.00085270.0031910.0070370.00.00028050.006880.0051650.0003596

ESP
AAEA
0.00023790.007692
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.130682Polymorphism
DBSNP ID rs34666647
1 combination linked to RECQL4:c.3062G>A, p.Arg1021Gln OLI599
1 disease linked to RECQL4:c.3062G>A, p.Arg1021Gln Disorder of sex development
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