Details for ANOS1:c.1678G>A, p.Val560Ile

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
85037968535755
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ANOS1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000216.3
CDNA CHANGE c.1678G>A
PROTEIN CHANGE p.Val560Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.00390.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00086710.07.292e-050.00.011116.246e-050.00.00.0001048

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.028984Polymorphism
DBSNP ID NA
2 combinations linked to ANOS1:c.1678G>A, p.Val560Ile OLI852; OLI856
1 disease linked to ANOS1:c.1678G>A, p.Val560Ile Kallmann syndrome
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