Details for MYO7A:c.3504-39T>C,

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
7690035077189305
VARIANT EFFECT unknown
ANNOTATION FLAG automatically_attributed_and_verified
GENE MYO7A
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_000260.3
CDNA CHANGE c.3504-39T>C
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00320.00.00.01590.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0015020.02.909e-050.00.02030.08.956e-060.00050070.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.309211Polymorphism
DBSNP ID rs192929996
1 combination linked to MYO7A:c.3504-39T>C, OLI343
1 disease linked to MYO7A:c.3504-39T>C, 46,XY disorder of sex development
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