Details for Gene USH1G

GENE NAME USH1G
CHROMOSOME 17
ENSEMBL ID None
ENTREZ ID ENSG00000182040
UNIPROT ACCESSION NUMBER None
GO MOLECULAR FUNCTION ['identical protein binding', 'spectrin binding', 'protein binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS
4 combinations linked to USH1G OLI260; OLI103; OLI454; OLI1649
4 variants linked to USH1G USH1G:p.Leu16Val; USH1G:c.28C>T, p.Arg10Trp; USH1G:c.1093G>A, p.Asp365Asn; USH1G:c.1162G>T, p.Glu388Ter
2 diseases linked to USH1G Usher syndrome type 1; Non-syndromic genetic deafness

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