Full data view for gene USH1C


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_153676.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Exon_old     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 2i_27_ c.104+580_*437del r.? p.? PDZ 1 (87-155);PDZ 2 (211-281);Coiled coil 1 (323-377);Coiled coil 2 (433-478);Proline rich (515-683);PDZ 3 (752-825) 2_21 Both (homozygous) - pathogenic (recessive) g.17431532_17554222del g.17409985_17532675del 105_2700del - USH1C_000034 - PubMed: Bitner-Glindzicz 2000 - - Germline yes - - 0 - DNA SEQ - - USH Fam1PatV1 PubMed: Bitner-Glindzicz 2000 5-generation family, 2 affected (F, M), proband M - - - - 0 - - 2 Anne-Françoise Roux
+/+ 2i_27_ c.104+580_*437del r.(?) p.(?) PDZ 1 (87-155);PDZ 2 (211-281);Coiled coil 1 (323-377);Coiled coil 2 (433-478);Proline rich (515-683);PDZ 3 (752-825) 2_21 Both (homozygous) - pathogenic (recessive) g.17431532_17554222del g.17409985_17532675del - - USH1C_000034 - PubMed: Bitner-Glindzicz 2000 - - Germline yes - - 0 - DNA SEQ - - USH Fam2PatIV2 PubMed: Bitner-Glindzicz 2000 4-generation family, 4 affected (2f, 2M), proband F - - - - 0 - - 1 Anne-Françoise Roux
+/+ 2i_27_ c.104+580_*437del r.? p.? PDZ 1 (87-155);PDZ 2 (211-281);Coiled coil 1 (323-377);Coiled coil 2 (433-478);Proline rich (515-683);PDZ 3 (752-825) 2_21 Both (homozygous) - pathogenic (recessive) g.17431532_17554222del g.17409985_17532675del 105_2700del - USH1C_000034 - PubMed: Bitner-Glindzicz 2000 - - Germline yes - - 0 - DNA SEQ - - USH Fam2PatIV4 PubMed: Bitner-Glindzicz 2000 relative M - - - - 0 - - 1 Anne-Françoise Roux
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