Details for SEMA7A:p.Phe459Ser

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
7470427274411931
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SEMA7A
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Phe459Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.064071Polymorphism
DBSNP ID rs1175151071
1 combination linked to SEMA7A:p.Phe459Ser OLI354
1 disease linked to SEMA7A:p.Phe459Ser Kallmann syndrome

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