Details for ANOS1:c.1654G>A, p.Glu552Lys

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
85038208535779
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ANOS1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000216.3
CDNA CHANGE c.1654G>A
PROTEIN CHANGE p.Glu552Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.934306None
DBSNP ID NA
2 combinations linked to ANOS1:c.1654G>A, p.Glu552Lys OLI1344; OLI837
2 diseases linked to ANOS1:c.1654G>A, p.Glu552Lys Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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