All transcript variants in gene USH1G


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_173477.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.756C>T benign r.(?) p.(=) - g.72916175G>A - USH1G(NM_173477.4):c.756C>T (p.D252=), USH1G(NM_173477.5):c.756C>T (p.D252=) - USH1G_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.756C>T likely benign r.(?) p.(=) - g.72916175G>A - USH1G(NM_173477.4):c.756C>T (p.D252=), USH1G(NM_173477.5):c.756C>T (p.D252=) - USH1G_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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