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.

14 entries on 1 page. Showing entries 1 - 14.
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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     
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) 19 Unknown - benign g.17519742C>G g.17498195C>G - - USH1C_000008 heterozygous PubMed: Roux 2006; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) 19 Unknown - benign g.17519742C>G g.17498195C>G - - USH1C_000008 heterozygous PubMed: Roux 2011; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA minigene, SEQ - - USH1 - PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) 19 Paternal (inferred) - benign g.17519742C>G g.17498195C>G - - USH1C_000008 homozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) 19 Maternal (inferred) - benign g.17519742C>G g.17498195C>G - - USH1C_000008 homozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) 19 Paternal (inferred) - benign g.17519742C>G g.17498195C>G - - USH1C_000008 homozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) 19 Maternal (inferred) - benign g.17519742C>G g.17498195C>G - - USH1C_000008 homozygous; Neutral PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) 19 Paternal (inferred) - benign g.17519742C>G g.17498195C>G - - USH1C_000008 homozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ, SEQ-NG-S - - DFN - PubMed: Besnard, Garcia-Garcia 2014 - F - - - - - - - 1 Anne-Françoise Roux
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) 19 Paternal (inferred) - benign g.17519742C>G g.17498195C>G - - USH1C_000008 homozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - Guinea - - - - - 1 Anne-Françoise Roux
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) 19 Maternal (inferred) - benign g.17519742C>G g.17498195C>G - - USH1C_000008 homozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - Guinea - - - - - 1 Anne-Françoise Roux
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) 19 Both (homozygous) - benign g.17519742C>G g.17498195C>G - - USH1C_000008 - PubMed: Roux 2011, USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ - - USH1 U819 PubMed: Roux 2011 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) 19 Unknown - benign g.17519742C>G g.17498195C>G - - USH1C_000008 heterozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) PDZ 3 (752-825) 19 Maternal (inferred) - benign g.17519742C>G g.17498195C>G - - USH1C_000008 homozygous PubMed: Besnard, Garcia-Garcia 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ, SEQ-NG-S - - DFN - PubMed: Besnard, Garcia-Garcia 2014 - F - - - - - - - 1 Anne-Françoise Roux
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) - 19 Unknown - benign g.17519742C>G g.17498195C>G - - USH1C_000008 heterozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Rong 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - - - - 1 Anne-Françoise Roux
-/- 24 c.2457G>C r.(?) p.(Glu819Asp) - 19 Unknown - benign g.17519742C>G g.17498195C>G - - USH1C_000008 heterozygous; non causative PubMed: Rong 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs1064074 Germline - - +HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
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