Full data view for gene LCA5

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

22 entries on 1 page. Showing entries 1 - 22.
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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     
+/. 4 c.256del r.(?) p.(Gln86Argfs*25) Both (homozygous) - pathogenic g.80223395del g.79513678del - - LCA5_000001 - PubMed: Abu-Safieh-2013 - - Germline yes - - - - DNA SEQ-NG-I - - RP - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - M yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - M yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - M yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - M yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - M yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - M yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - M yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - M yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - M yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - F yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - F yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - F yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Hollander 2007, OMIM:var0001 - - Germline yes - - - - DNA ? - - LCA5 - PubMed: Hollander et al 2007 - F yes Pakistan - - - - - 1 Frans Cremers
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline - - - - - DNA ? - - LCA5 - PubMed: Mackay 2013, Journal: Mackay 2013 - - - - - - - - - 1 Frans Cremers
+?/+? 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: den Hollander 2007, PubMed: Mackay 2013 - - Unknown ? - - - - DNA ? - - LCA5 - - - - - - - - - - - 1 Frans Cremers
+/+ 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - pathogenic g.80198883del g.79489166del - - LCA5_000001 - PubMed: Mackay 2013, Journal: Mackay 2013 - - Germline yes - - - - DNA SEQ - - LCA5 - PubMed: Mackay 2013, Journal: Mackay 2013 6-generation family, 3 affecteds (3M), unaffected heterozygous carriers M yes - - - - - - 3 Johan den Dunnen
+/. - c.1151del r.(?) p.(Pro384Glnfs*18) Unknown ACMG pathogenic g.80198883del g.79489166del - - LCA5_000001 ACMG grading: PVS1,PM2,PM3 den Hollander et al. 2007. Nat Genet 39: 889; Maranhao et al. 2015. PLoS One 10: 136561 - rs386834252 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198881del - c.1151delC (p.Pro384GlnfsX17) - LCA5_000001 - PubMed: mckibbin-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: mckibbin-2010 - - - - - - - - - 1 LOVD
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198881del - c.1151delC (p.Pro384GlnfsX17) - LCA5_000001 - PubMed: mckibbin-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: mckibbin-2010 - - - - - - - - - 1 LOVD
+?/. 8 c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198881del - c.1151delC (p.Pro384GlnfsX17) - LCA5_000001 - PubMed: mckibbin-2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: mckibbin-2010 - - - - - - - - - 1 LOVD
+?/. - c.1151del r.(?) p.(Pro384Glnfs*18) Both (homozygous) - likely pathogenic g.80198883del g.79489166del LCA5: c.1151delC (NM_001122769.2, p.P384fs (NP_001116241.1) - LCA5_000001 homozygous PubMed: Maranhao 2015 - rs386834252 Germline yes - - - - DNA SEQ-NG - - retinal disease IV: 9 PubMed: Maranhao 2015 sixteen-member pedigree with three consanguineous marriages ? yes Pakistan - - - - - 1 LOVD
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