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1 protein found in SwissVar (35 variants)

with gene/protein name P51798

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P51798 CLCN7_HUMAN osteopetrosis, autosomal recessive 4 p.Leu132Pro
p.Asn214Ser
p.Gly240Arg
p.Pro249Arg
p.Ile261Phe
p.Ala299Val
p.Met332Val
p.Arg403Gln
p.Gly521Arg
p.Arg526Gln
p.Arg526Trp
p.Leu549Pro
p.Leu614Pro
p.Leu651Pro
p.Ser744Phe
p.Arg762Gln
p.Arg762Trp
p.Leu766Pro
p.Arg767Trp
p.Arg767Pro
p.Arg767Gln





















P51798 CLCN7_HUMAN osteopetrosis, autosomal dominant 2 p.Leu213Phe
p.Gly215Arg
p.Arg286Trp
p.Arg286Gln
p.Ser290Tyr
p.Phe318Leu
p.Arg326Gly
p.Gly347Arg
p.Ser473Asn
p.Leu490Phe
p.Leu564Pro
p.Gly677Val
p.Phe758Leu
p.Arg762Gln
p.Arg767Trp















P51798 CLCN7_HUMAN osteopetrosis, autosomal recessive 2 p.Leu224Arg