Details for OFD1:c.2044A>C, p.Ile682Leu

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
1377862313760504
VARIANT EFFECT None
ANNOTATION FLAG None
GENE OFD1
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_003611
CDNA CHANGE c.2044A>C
PROTEIN CHANGE p.Ile682Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00190.0070.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0007250.0076950.00039690.00.00.00.00.00029719.227e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.377497Polymorphism
DBSNP ID NA
1 combination linked to OFD1:c.2044A>C, p.Ile682Leu OLI1565
1 disease linked to OFD1:c.2044A>C, p.Ile682Leu Syndrome with 46,XY disorder of sex development
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