Details for DMXL2:c.4878G>C, p.Gln1626His

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
5178385051491653
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DMXL2
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_015263.3
CDNA CHANGE c.4878G>C
PROTEIN CHANGE p.Gln1626His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.993e-050.00.00.00019865.448e-050.08.815e-060.03.275e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging1.489116Polymorphism
DBSNP ID rs754695396
1 combination linked to DMXL2:c.4878G>C, p.Gln1626His OLI849
1 disease linked to DMXL2:c.4878G>C, p.Gln1626His Kallmann syndrome
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