Details for DMXL2:c.3104C>G, p.Pro1035Arg

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
5179231751500120
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DMXL2
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_015263.3
CDNA CHANGE c.3104C>G
PROTEIN CHANGE p.Pro1035Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.767e-050.00.00.00.00.00.00013210.00032640.0

ESP
AAEA
0.00.0001165
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.603702Polymorphism
DBSNP ID rs372199887
1 combination linked to DMXL2:c.3104C>G, p.Pro1035Arg OLI814
1 disease linked to DMXL2:c.3104C>G, p.Pro1035Arg Kallmann syndrome
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