Full data view for gene CRB1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_201253.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+?/. 3 c.750T>G r.(?) p.(Cys250Trp) Parent #1 - likely pathogenic g.197313508T>G g.197344378T>G - - CRB1_000009 - PubMed: Henderson 2010 - - Germline - - - 0 - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 3 c.750T>G r.(?) p.(Cys250Trp) Parent #2 - likely pathogenic g.197313508T>G g.197344378T>G - - CRB1_000009 - PubMed: Henderson 2010 - - Germline - - - 0 - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 3 c.750T>G r.(?) p.(Cys250Trp) Parent #1 - likely pathogenic g.197313508T>G g.197344378T>G - - CRB1_000009 - PubMed: Henderson 2010 - - Germline - - - 0 - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 3 c.750T>G r.(?) p.(Cys250Trp) Parent #2 - likely pathogenic g.197313508T>G g.197344378T>G - - CRB1_000009 - PubMed: Henderson 2010 - - Germline - - - 0 - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 3 c.750T>G r.(?) p.(Cys250Trp) Parent #1 - likely pathogenic g.197313508T>G g.197344378T>G - - CRB1_000009 - PubMed: Henderson 2010 - - Germline - - - 0 - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 3 c.750T>G r.(?) p.(Cys250Trp) Parent #2 - likely pathogenic g.197313508T>G g.197344378T>G - - CRB1_000009 - PubMed: Henderson 2010 - - Germline - - - 0 - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 3 c.750T>G r.(?) p.(Cys250Trp) Parent #1 - likely pathogenic g.197313508T>G g.197344378T>G - - CRB1_000009 - PubMed: Henderson 2010 - - Germline - - - 0 - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 3 c.750T>G r.(?) p.(Cys250Trp) Parent #2 - likely pathogenic g.197313508T>G g.197344378T>G - - CRB1_000009 - PubMed: Henderson 2010 - - Germline - - - 0 - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 3 c.750T>G r.(?) p.(Cys250Trp) Parent #1 - likely pathogenic g.197313508T>G g.197344378T>G - - CRB1_000009 - PubMed: Henderson 2010 - - Germline - - - 0 - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 3 c.750T>G r.(?) p.(Cys250Trp) Parent #2 - likely pathogenic g.197313508T>G g.197344378T>G - - CRB1_000009 - PubMed: Henderson 2010 - - Germline - - - 0 - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 3 c.750T>G r.(?) p.(Cys250Trp) Parent #1 - likely pathogenic g.197313508T>G g.197344378T>G - - CRB1_000009 - PubMed: Henderson 2010 - - Germline - - - 0 - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 3 c.750T>G r.(?) p.(Cys250Trp) Parent #2 - likely pathogenic g.197313508T>G g.197344378T>G - - CRB1_000009 - PubMed: Henderson 2010 - - Germline - - - 0 - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 3 c.750T>G r.(?) p.(Cys250Trp) Unknown - pathogenic g.197313508T>G g.197344378T>G 885T>G - CRB1_000009 not in 100 controls PubMed: den Hollander 1999 - - Germline - - ApaI+;BanII+;BmrI+;BsrI+;PspOMI+;HpyCH4III- 0 - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: den Hollander 1999 - ? ? Netherlands Dutch - 0 - - 1 Frans Cremers
+/. 3 c.750T>G r.(?) p.(Cys250Trp) Unknown - pathogenic g.197313508T>G g.197344378T>G 885T>G - CRB1_000009 not in 100 controls PubMed: den Hollander 1999 - - Germline - - ApaI+;BanII+;BmrI+;BsrI+;PspOMI+;HpyCH4III- 0 - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: den Hollander 1999 - ? ? Netherlands Dutch - 0 - - 1 Frans Cremers
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