Full data view for gene CEP19

Information The variants shown are described using the NM_032898.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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     
?/. - c.154G>A r.(?) p.(Ala52Thr) Unknown - VUS g.196434772C>T - CEP19(NM_032898.3):c.154G>A (p.(Ala52Thr)) - CEP19_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155C>A r.(?) p.(Ala52Asp) Unknown - VUS g.196434771G>T - CEP19(NM_032898.3):c.155C>A (p.(Ala52Asp)) - CEP19_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194dup r.(?) p.(Tyr65Ter) Both (homozygous) - pathogenic (recessive) g.196434732dup g.196707861dup 194_195insA - CEP19_000004 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat501 PubMed: Khan 2016 5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - 8 Johan den Dunnen
+/. - c.194dup r.(?) p.(Tyr65Ter) Both (homozygous) - pathogenic (recessive) g.196434732dup g.196707861dup 194_195insA - CEP19_000004 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat502 PubMed: Khan 2016 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.194dup r.(?) p.(Tyr65Ter) Both (homozygous) - pathogenic (recessive) g.196434732dup g.196707861dup 194_195insA - CEP19_000004 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat503 PubMed: Khan 2016 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.194dup r.(?) p.(Tyr65Ter) Both (homozygous) - pathogenic (recessive) g.196434732dup g.196707861dup 194_195insA - CEP19_000004 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat505 PubMed: Khan 2016 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.194dup r.(?) p.(Tyr65Ter) Both (homozygous) - pathogenic (recessive) g.196434732dup g.196707861dup 194_195insA - CEP19_000004 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat507 PubMed: Khan 2016 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.194dup r.(?) p.(Tyr65Ter) Both (homozygous) - pathogenic (recessive) g.196434732dup g.196707861dup 194_195insA - CEP19_000004 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat508 PubMed: Khan 2016 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.194dup r.(?) p.(Tyr65Ter) Both (homozygous) - pathogenic (recessive) g.196434732dup g.196707861dup 194_195insA - CEP19_000004 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat509 PubMed: Khan 2016 - M yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.194dup r.(?) p.(Tyr65*) Both (homozygous) - likely pathogenic g.196434732dup g.196707861dup CEP19 c.194_195insA (p.Tyr65*) - CEP19_000004 homozygous PubMed: Bolukbasi 2018 - - Germline yes - - - - DNA arraySNP, SEQ blood - BBS 501 PubMed: Bolukbasi 2018 large consanguineous family, individual 501 F - Chile - - - - - 1 LOVD
+?/. - c.194dup r.(?) p.(Tyr65*) Both (homozygous) - likely pathogenic g.196434732dup g.196707861dup CEP19 c.194_195insA (p.Tyr65*) - CEP19_000004 homozygous PubMed: Bolukbasi 2018 - - Germline yes - - - - DNA arraySNP, SEQ blood - BBS 502 PubMed: Bolukbasi 2018 large consanguineous family, individual 502 M - Chile - - - - - 1 LOVD
+?/. - c.194dup r.(?) p.(Tyr65*) Both (homozygous) - likely pathogenic g.196434732dup g.196707861dup CEP19 c.194_195insA (p.Tyr65*) - CEP19_000004 homozygous PubMed: Bolukbasi 2018 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood - BBS 503 PubMed: Bolukbasi 2018 large consanguineous family, individual 503 M - Chile - - - - - 1 LOVD
+?/. - c.194dup r.(?) p.(Tyr65*) Both (homozygous) - likely pathogenic g.196434732dup g.196707861dup CEP19 c.194_195insA (p.Tyr65*) - CEP19_000004 homozygous PubMed: Bolukbasi 2018 - - Germline yes - - - - DNA arraySNP, SEQ blood - BBS 505 PubMed: Bolukbasi 2018 large consanguineous family, individual 505 F - Chile - - - - - 1 LOVD
+?/. - c.194dup r.(?) p.(Tyr65*) Both (homozygous) - likely pathogenic g.196434732dup g.196707861dup CEP19 c.194_195insA (p.Tyr65*) - CEP19_000004 homozygous PubMed: Bolukbasi 2018 - - Germline yes - - - - DNA arraySNP, SEQ blood - BBS 507 PubMed: Bolukbasi 2018 large consanguineous family, individual 507 F - Chile - - - - - 1 LOVD
+?/. - c.194dup r.(?) p.(Tyr65*) Both (homozygous) - likely pathogenic g.196434732dup g.196707861dup CEP19 c.194_195insA (p.Tyr65*) - CEP19_000004 homozygous PubMed: Bolukbasi 2018 - - Germline yes - - - - DNA arraySNP, SEQ blood - BBS 508 PubMed: Bolukbasi 2018 large consanguineous family, individual 508 F - Chile - - - - - 1 LOVD
+?/. - c.194dup r.(?) p.(Tyr65*) Both (homozygous) - likely pathogenic g.196434732dup g.196707861dup CEP19 c.194_195insA (p.Tyr65*) - CEP19_000004 homozygous PubMed: Bolukbasi 2018 - - Germline yes - - - - DNA arraySNP, SEQ-NG, SEQ blood - BBS 509 PubMed: Bolukbasi 2018 large consanguineous family, individual 509 M - Chile - - - - - 1 LOVD
+?/. - c.194dup r.(?) p.(Tyr65*) Both (homozygous) - likely pathogenic g.196434732dup g.196707861dup CEP19 c.194_195insA (p.Tyr65*) - CEP19_000004 homozygous PubMed: Bolukbasi 2018 - - Germline yes - - - - DNA arraySNP, SEQ blood - BBS 511 PubMed: Bolukbasi 2018 large consanguineous family, individual 511 F - Chile - - - - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) Both (homozygous) - likely pathogenic g.196434682G>A g.196707811G>A CEP19 c.244C>T, p.(Arg82*) - CEP19_000005 homozygous PubMed: Shalata 2013 - - Germline yes - - - - DNA STR, SEQ blood - MOSPGF V-3 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual V-3 M yes Israel Arab - - - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) Both (homozygous) - likely pathogenic g.196434682G>A g.196707811G>A CEP19 c.244C>T, p.(Arg82*) - CEP19_000005 homozygous PubMed: Shalata 2013 - - Germline yes - - - - DNA STR, SEQ blood - MOSPGF V-8 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual V-8 M yes Israel Arab - - - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) Both (homozygous) - likely pathogenic g.196434682G>A g.196707811G>A CEP19 c.244C>T, p.(Arg82*) - CEP19_000005 homozygous PubMed: Shalata 2013 - - Germline yes - - - - DNA STR, SEQ blood - MOSPGF Vlb-3 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-3 F yes Israel Arab - - - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) Both (homozygous) - likely pathogenic g.196434682G>A g.196707811G>A CEP19 c.244C>T, p.(Arg82*) - CEP19_000005 homozygous PubMed: Shalata 2013 - - Germline yes - - - - DNA STR, SEQ blood - MOSPGF Vlb-15 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-15 M yes Israel Arab 36y - - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) Both (homozygous) - likely pathogenic g.196434682G>A g.196707811G>A CEP19 c.244C>T, p.(Arg82*) - CEP19_000005 homozygous PubMed: Shalata 2013 - - Germline yes - - - - DNA STR, SEQ blood - MOSPGF Vlb-16 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-16 M yes Israel Arab - - - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) Both (homozygous) - likely pathogenic g.196434682G>A g.196707811G>A CEP19 c.244C>T, p.(Arg82*) - CEP19_000005 homozygous PubMed: Shalata 2013 - - Germline yes - - - - DNA STR, SEQ blood - MOSPGF Vlb-24 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-24 F yes Israel Arab - - - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) Both (homozygous) - likely pathogenic g.196434682G>A g.196707811G>A CEP19 c.244C>T, p.(Arg82*) - CEP19_000005 homozygous PubMed: Shalata 2013 - - Germline yes - - - - DNA STR, SEQ blood - MOSPGF Vlb-25 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-25 F yes Israel Arab - - - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) Both (homozygous) - likely pathogenic g.196434682G>A g.196707811G>A CEP19 c.244C>T, p.(Arg82*) - CEP19_000005 homozygous PubMed: Shalata 2013 - - Germline yes - - - - DNA STR, SEQ blood - MOSPGF Vlb-26 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-26 M yes Israel Arab - - - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) Both (homozygous) - likely pathogenic g.196434682G>A g.196707811G>A CEP19 c.244C>T, p.(Arg82*) - CEP19_000005 homozygous PubMed: Shalata 2013 - - Germline yes - - - - DNA STR, SEQ blood - MOSPGF Vlb-32 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-32 F yes Israel Arab - - - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) Both (homozygous) - likely pathogenic g.196434682G>A g.196707811G>A CEP19 c.244C>T, p.(Arg82*) - CEP19_000005 homozygous PubMed: Shalata 2013 - - Germline yes - - - - DNA STR, SEQ blood - MOSPGF Vlb-33 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-33 F yes Israel Arab - - - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Arg82*) Both (homozygous) - likely pathogenic g.196434682G>A g.196707811G>A CEP19 c.244C>T, p.(Arg82*) - CEP19_000005 homozygous PubMed: Shalata 2013 - - Germline yes - - - - DNA STR, SEQ blood - MOSPGF Vlb-34 PubMed: Shalata 2013 large Arab family, with multiple consanguinity; individual Vlb-34 M yes Israel Arab - - - - 1 LOVD
+?/. - c.326T>C r.(?) p.(Leu109Pro) Unknown - VUS g.196434600A>G g.196707729A>G - - CEP19_000003 - PubMed: Kasak 2009 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SPGF FamPat1/2 PubMed: Kasak 2009 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Estonia - - - - - 2 Johan den Dunnen
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