Details for SEMA3E:c.760G>C, p.Glu254Gln

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
8303646683407150
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SEMA3E
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_012431.3
CDNA CHANGE c.760G>C
PROTEIN CHANGE p.Glu254Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.994e-050.00.00.00.00027210.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.728846Polymorphism
DBSNP ID rs200714352
3 combinations linked to SEMA3E:c.760G>C, p.Glu254Gln OLI1113; OLI1335; OLI1351
3 diseases linked to SEMA3E:c.760G>C, p.Glu254Gln Normosmic congenital hypogonadotropic hypogonadism; CHARGE syndrome; Kallmann syndrome
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