Details for ZFPM2:c.2107A>C, p.Met703Leu

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
106814417105802189
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ZFPM2
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_012082.3
CDNA CHANGE c.2107A>C
PROTEIN CHANGE p.Met703Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.0040.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00049450.00.00.00.0066930.08.88e-060.00033120.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.205808Disease causing
DBSNP ID rs121908603
2 combinations linked to ZFPM2:c.2107A>C, p.Met703Leu OLI400; OLI927
3 diseases linked to ZFPM2:c.2107A>C, p.Met703Leu Transposition of the great arteries; 46,XY disorder of sex development; 46,XY partial gonadal dysgenesis
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