Full data view for gene KIAA0753

Information The variants shown are described using the NM_014804.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Re-site     

VIP     

Methylation     

Template     

Technique     

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Disease     

ID_report     

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VIP     

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Panel size     

Owner     
-?/. - c.236T>C r.(?) p.(Val79Ala) Unknown - likely benign g.6531919A>G g.6628599A>G KIAA0753(NM_014804.2):c.236T>C (p.V79A), KIAA0753(NM_014804.3):c.236T>C (p.V79A) - KIAA0753_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.236T>C r.(?) p.(Val79Ala) Unknown - likely benign g.6531919A>G - KIAA0753(NM_014804.2):c.236T>C (p.V79A), KIAA0753(NM_014804.3):c.236T>C (p.V79A) - KIAA0753_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.769A>G r.(?) p.(Arg257Gly) Parent #1 - pathogenic g.6528131T>C g.6624811T>C - - KIAA0753_000001 - - - - Germline - - - - - DNA SEQ-NG - - ? - - - - - - - - - - - 1 Joshi Stephen
+?/. - c.769A>G r.(?) p.(Arg257Gly) Unknown - likely pathogenic g.6528131T>C g.6624811T>C c.769A>G; p.R257G - KIAA0753_000001 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 390 PubMed: Brooks 2018 family 79 F - United States - - - - - 1 LOVD
+?/. - c.769A>G r.(?) p.(Arg257Gly) Unknown - likely pathogenic g.6528131T>C g.6624811T>C c.769A>G; p.R257G - KIAA0753_000001 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 389 PubMed: Brooks 2018 family 79 M - United States - - - - - 1 LOVD
+/. 3 c.769A>G r.(?) p.(Arg257Gly) Unknown - pathogenic g.6528131T>C - c.769A>G - KIAA0753_000001 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 389 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. 3 c.769A>G r.(?) p.(Arg257Gly) Unknown - pathogenic g.6528131T>C - c.769A>G - KIAA0753_000001 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 390 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. - c.775C>T r.(?) p.(Gln259Ter) Unknown - pathogenic g.6528125G>A g.6624805G>A - - KIAA0753_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.810C>T r.(?) p.(Tyr270=) Unknown - likely benign g.6528090G>A - KIAA0753(NM_014804.2):c.810C>T (p.Y270=) - KIAA0753_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.970C>T r.(?) p.(Arg324*) Both (homozygous) ACMG pathogenic (recessive) g.6526336G>A - - - KIAA0753_000011 ACMG PVS1, PP4, PM3, PM2, PP5 PubMed: Silveira 2021, Journal: Silveira 2021 - - Germline - - - - - DNA SEQ-NG-I blood - SEMD Pat6 PubMed: Silveira 2021, Journal: Silveira 2021 - M yes Brazil - - - - - 1 Maria Dora Jazmin Lacarrubba-Flores
?/. - c.1014C>G r.(?) p.(Ser338Arg) Unknown - VUS g.6526292G>C - KIAA0753(NM_014804.3):c.1014C>G (p.(Ser338Arg)) - KIAA0753_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1022G>A r.(?) p.(Arg341His) Unknown - VUS g.6526284C>T - KIAA0753(NM_014804.3):c.1022G>A (p.(Arg341His)) - KIAA0753_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1088T>C r.(?) p.(Ile363Thr) Unknown - VUS g.6526218A>G - KIAA0753(NM_001351225.1):c.191T>C (p.I64T) - KIAA0753_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1104+1G>A r.spl? p.? Unknown - VUS g.6526201C>T - KIAA0753(NM_014804.3):c.1104+1G>A - KIAA0753_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1274A>G r.(?) p.(Gln425Arg) Unknown - likely benign g.6524149T>C - KIAA0753(NM_014804.2):c.1274A>G (p.(Gln425Arg)) - KIAA0753_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1302G>A r.(?) p.(Lys434=) Unknown - likely benign g.6524121C>T - KIAA0753(NM_001351225.1):c.405G>A (p.K135=) - KIAA0753_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1316-6A>C r.(=) p.(=) Unknown - likely benign g.6515474T>G - KIAA0753(NM_014804.3):c.1316-6A>C - KIAA0753_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1443C>T r.(?) p.(Asp481=) Unknown - likely benign g.6515341G>A - KIAA0753(NM_014804.3):c.1443C>T (p.D481=) - KIAA0753_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1545+10C>T r.(=) p.(=) Unknown - likely benign g.6515229G>A - KIAA0753(NM_001351225.1):c.648+10C>T, KIAA0753(NM_014804.3):c.1545+10C>T - KIAA0753_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1545+10C>T r.(=) p.(=) Unknown - likely benign g.6515229G>A - KIAA0753(NM_001351225.1):c.648+10C>T, KIAA0753(NM_014804.3):c.1545+10C>T - KIAA0753_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1657C>T r.(?) p.(Arg553Cys) Unknown - VUS g.6513369G>A - KIAA0753(NM_014804.2):c.1657C>T (p.(Arg553Cys)) - KIAA0753_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1754C>T r.(?) p.(Thr585Ile) Unknown - VUS g.6511743G>A - KIAA0753(NM_014804.2):c.1754C>T (p.(Thr585Ile)) - KIAA0753_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2331C>T r.(?) p.(Ile777=) Unknown - likely benign g.6499505G>A g.6596185G>A KIAA0753(NM_001351225.1):c.1434C>T (p.I478=) - KIAA0753_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2338C>T r.(?) p.(Arg780Cys) Unknown - likely benign g.6499498G>A - KIAA0753(NM_014804.3):c.2338C>T (p.R780C) - KIAA0753_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2358+10G>T r.(=) p.(=) Unknown - likely benign g.6499468C>A - KIAA0753(NM_014804.3):c.2358+10G>T - KIAA0753_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15i c.2359-1G>C r.2359_2367del p.Lys787_Gln789del Parent #2 - pathogenic g.6498374C>G g.6595054C>G - - KIAA0753_000002 - - - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ? - - - - - - - - - - - 1 Joshi Stephen
+?/. - c.2359-1G>C r.spl p.(?) Unknown - likely pathogenic g.6498374C>G g.6595054C>G c.2359-1G>C - KIAA0753_000002 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 390 PubMed: Brooks 2018 family 79 F - United States - - - - - 1 LOVD
+?/. - c.2359-1G>C r.spl p.(?) Unknown - likely pathogenic g.6498374C>G g.6595054C>G c.2359-1G>C - KIAA0753_000002 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 389 PubMed: Brooks 2018 family 79 M - United States - - - - - 1 LOVD
+/. 11i c.2359-1G>C r.spl? p.? Unknown - pathogenic g.6498374C>G - c.2359-1G>C - KIAA0753_000002 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 389 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. 11i c.2359-1G>C r.spl? p.? Unknown - pathogenic g.6498374C>G - c.2359-1G>C - KIAA0753_000002 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 390 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
-?/. - c.2419T>G r.(?) p.(Trp807Gly) Unknown - likely benign g.6498313A>C - KIAA0753(NM_001351225.1):c.1522T>G (p.W508G) - KIAA0753_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2430A>G r.(?) p.(Glu810=) Unknown - likely benign g.6498302T>C - KIAA0753(NM_001351225.1):c.1533A>G (p.E511=) - KIAA0753_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2440+2_2440+4dup r.spl? p.? Unknown - likely benign g.6498288_6498290dup - KIAA0753(NM_014804.3):c.2440+2_2440+4dup - KIAA0753_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2686C>T r.(?) p.(Gln896*) Unknown - pathogenic g.6493199G>A - KIAA0753(NM_001351225.1):c.1789C>T (p.Q597*) - KIAA0753_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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