GENETIC ENCYCLOPEDIA
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gene: ANOS1

id3730
symbolANOS1
organismHomo sapiens
full nameanosmin 1
summaryMutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]
variant-disease

GRCh38/hg38 Xp22.31(chrX:8469933-8736337)x3 AND See cases

GRCh38/hg38 Xp22.31(chrX:8629706-8706315)x3 AND See cases

KAL1, 3,300-BP DEL AND Kallmann syndrome 1

NM_000216.4(ANOS1):c.769C>T (p.Arg257Ter) AND Kallmann syndrome 1

KAL1, EX5DEL AND Kallmann syndrome 1

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