Full data view for gene UBAP1L

Information The variants shown are described using the NM_001163692.1 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

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Disease     

ID_report     

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Owner     
+?/. - c.121-2A>C r.spl p.? Both (homozygous) - VUS g.65395024T>G g.65102686T>G - - UBAP1L_000006 candidate disease gene PubMed: Carss 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease W000375 PubMed: Carss 2017 patient M - - Asia-S - - - - 1 Johan den Dunnen
+?/. 1i c.121-1G>C r.121_699del p.His41_Ala233del Both (homozygous) - likely pathogenic (recessive) g.65395023C>G g.65102685C>G - - UBAP1L_000004 - Han 2024, submitted - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood WGS retinal disease FamVIIIPatII9 Han 2024, submitted 3-generation family, 3 affected sibs (2F, M), unaffected parents F yes Netherlands Turkey - - - - 1 Susanne Roosing
-?/. - c.512C>G r.(?) p.(Pro171Arg) Unknown - likely benign g.65394631G>C - UBAP1L(NM_001163692.1):c.512C>G (p.(Pro171Arg)) - UBAP1L_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518C>A r.(?) p.(Ala173Asp) Unknown - likely benign g.65394625G>T - UBAP1L(NM_001163692.1):c.518C>A (p.(Ala173Asp)) - UBAP1L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.634_644del r.(?) p.(Ser212Alafs*44) Paternal (inferred) - likely pathogenic (recessive) g.65394509_65394519del g.65102171_65102181del - - UBAP1L_000005 - Han 2024, submitted - - Germline - - - - - DNA RT-PCR, SEQ, SEQ-NG blood WES/WGS retinal disease FamVIIPatII2 Han 2024, submitted 2-generation family, 1 affected, unaffected parents M - Israel Arab;Christian - - - - 1 Susanne Roosing
+/. - c.634_644del r.(?) p.(Ser212Alafs*44) Both (homozygous) - likely pathogenic (recessive) g.65394509_65394519del g.65102171_65102181del - - UBAP1L_000005 - PubMed: Zeitz 2024 - - Germline - - - - - DNA SEQ - - retinal disease F3377PatCIC06376 PubMed: Zeitz 2024 2-generation family, 1 affected, unaffected parents M yes Tunisia - - - - - 1 Johan den Dunnen
+/. - c.634_644del r.(?) p.(Ser212Alafs*44) Both (homozygous) - likely pathogenic (recessive) g.65394509_65394519del g.65102171_65102181del - - UBAP1L_000005 - PubMed: Zeitz 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease F7544PatCIC13094 PubMed: Zeitz 2024 2-generation family, affected brother/sister, unaffected parents F yes Tunisia - - - - - 2 Johan den Dunnen
+?/. - c.710del r.(?) p.(Pro237Argfs*32) Both (homozygous) - likely pathogenic (recessive) g.65392044del g.65099706del - - UBAP1L_000002 - Han 2024, submitted - - Germline - - - - - DNA SEQ, SEQ-NG blood WES retinal disease FamIIPatII2 Han 2024, submitted 3-generation family, 3 affected sibs (F, 2M), unaffected parents M - United States - - - - - 1 Susanne Roosing
+?/. - c.859C>T r.(?) p.(Arg287*) Both (homozygous) - likely pathogenic (recessive) g.65391893G>A g.65099555G>A - - UBAP1L_000001 - Han 2024, submitted - - Germline - - - - - DNA SEQ, SEQ-NG blood WES retinal disease FamIPatIII1 Han 2024, submitted 3-generation family, affected brother sister, unaffected parents M - Hungary - - - - - 2 Susanne Roosing
+?/. - c.859C>T r.(?) p.(Arg287*) Both (homozygous) - likely pathogenic (recessive) g.65391893G>A g.65099555G>A - - UBAP1L_000001 - Han 2024, submitted - - Germline - - - - - DNA SEQ, SEQ-NG blood WES retinal disease FamIPatIII2 Han 2024, submitted sister F - Hungary - - - - - 1 Susanne Roosing
+/. - c.859C>T r.(?) p.(Arg287*) Both (homozygous) - likely pathogenic (recessive) g.65391893G>A g.65099555G>A - - UBAP1L_000001 - PubMed: Zeitz 2024 - - Germline - - - - - DNA SEQ - - retinal disease F5326PatCIC09282 PubMed: Zeitz 2024 2-generation family, 2 affected sisters, unaffected parents F yes France Tunisia - - - - 2 Johan den Dunnen
+?/. - c.910-7G>A r.(909_910ins910-5_910-1) p.(Phe304Profs*91) Both (homozygous) - likely pathogenic (recessive) g.65386921C>T g.65094583C>T - - UBAP1L_000003 effect on splicing predicted from mini-gene splicing assay Han 2024, submitted - - Germline - - - - - DNA RT-PCR, SEQ, SEQ-NG blood WES/WGS retinal disease FamIIIPatIII1 Han 2024, submitted 4-generation family, 1 affected, unaffected parents M - Israel Africa-N;jew - - - - 1 Susanne Roosing
+?/. - c.910-7G>A r.(909_910ins910-5_910-1) p.(Phe304Profs*91) Both (homozygous) - likely pathogenic (recessive) g.65386921C>T g.65094583C>T - - UBAP1L_000003 effect on splicing predicted from mini-gene splicing assay Han 2024, submitted - - Germline - - - - - DNA RT-PCR, SEQ, SEQ-NG blood WES/WGS retinal disease FamIVPatII1 Han 2024, submitted 2-generation family, 1 affected, unaffected parents F yes Israel Arab;Muslim - - - - 1 Susanne Roosing
+?/. - c.910-7G>A r.(909_910ins910-5_910-1) p.(Phe304Profs*91) Both (homozygous) - likely pathogenic (recessive) g.65386921C>T g.65094583C>T - - UBAP1L_000003 effect on splicing predicted from mini-gene splicing assay Han 2024, submitted - - Germline - - - - - DNA RT-PCR, SEQ, SEQ-NG blood WES/WGS retinal disease FamVPatII2 Han 2024, submitted 3-generation family, 1 affected, unaffected parents F - Israel jew-Ashkenazi - - - - 1 Susanne Roosing
+?/. - c.910-7G>A r.(909_910ins910-5_910-1) p.(Phe304Profs*91) Both (homozygous) - likely pathogenic (recessive) g.65386921C>T g.65094583C>T - - UBAP1L_000003 effect on splicing predicted from mini-gene splicing assay Han 2024, submitted - - Germline - - - - - DNA RT-PCR, SEQ, SEQ-NG blood WES/WGS retinal disease FamVIPatII2 Han 2024, submitted 3-generation family, affected brother sister, unaffected parents M - Israel Africa-N;jew - - - - 2 Susanne Roosing
+?/. - c.910-7G>A r.(909_910ins910-5_910-1) p.(Phe304Profs*91) Both (homozygous) - likely pathogenic (recessive) g.65386921C>T g.65094583C>T - - UBAP1L_000003 effect on splicing predicted from mini-gene splicing assay Han 2024, submitted - - Germline - - - - - DNA RT-PCR, SEQ, SEQ-NG blood WES/WGS retinal disease FamVIPatII3 Han 2024, submitted sister F - Israel Africa-N;jew - - - - 1 Susanne Roosing
+?/. - c.910-7G>A r.(909_910ins910-5_910-1) p.(Phe304Profs*91) Maternal (confirmed) - likely pathogenic (recessive) g.65386921C>T g.65094583C>T - - UBAP1L_000003 effect on splicing predicted from mini-gene splicing assay Han 2024, submitted - - Germline - - - - - DNA RT-PCR, SEQ, SEQ-NG blood WES/WGS retinal disease FamVIIPatII2 Han 2024, submitted 2-generation family, 1 affected, unaffected parents M - Israel Arab;Christian - - - - 1 Susanne Roosing
+/. - c.910-7G>A r.909_910ins910-5_910-1 p.Phe304Profs*91 Both (homozygous) - likely pathogenic (recessive) g.65386921C>T g.65094583C>T - - UBAP1L_000003 - PubMed: Zeitz 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS retinal disease F1362PatCIC03225 PubMed: Zeitz 2024 2-generation family, 1 affected, unaffected heterozygous parents/relatives M yes France Tunisia - - - - 1 Johan den Dunnen
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