Details for MYO7A:c.1554+22C>T,

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
7687339877162352
VARIANT EFFECT unknown
ANNOTATION FLAG manually_attributed
GENE MYO7A
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000260.4
CDNA CHANGE c.1554+22C>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.0030.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00014210.00.00.00.0020150.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.205776Polymorphism
DBSNP ID rs531528984
1 combination linked to MYO7A:c.1554+22C>T, OLI345
1 disease linked to MYO7A:c.1554+22C>T, 46,XY disorder of sex development
Found any issues with the data on this page? Report this entry.