Full data view for gene RFC4

Information The variants shown are described using the NM_002916.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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     
+?/. 4i c.290+5G>T r.211_290del p.Leu71AlafsTer2 Maternal (confirmed) - likely pathogenic (recessive) g.186515319C>A g.186797530C>A - - RFC4_000011 - PubMed: Morimoto 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - trio WES ? Pat2 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - 36y - - - 1 Johan den Dunnen
?/. - c.748C>T r.(?) p.(Arg250*) Unknown - VUS g.186509567G>A - RFC4(NM_002916.3):c.748C>T (p.(Arg250*)) - RFC4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.784del r.(?) p.(Ile262LeufsTer7) Parent #1 - likely pathogenic (recessive) g.186509531del g.186791742del - - RFC4_000010 - PubMed: Morimoto 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat6 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected parents M - Japan - - - - - 1 Johan den Dunnen
+?/. - c.824_826del r.(?) p.(Asp275del) Paternal (confirmed) - likely pathogenic (recessive) g.186508173_186508175del g.186790384_186790386del - - RFC4_000009 - PubMed: Morimoto 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat5 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - - Europe 08y06m - - - 1 Johan den Dunnen
+?/. - c.824_826del r.(?) p.(Asp275del) Both (homozygous) - likely pathogenic (recessive) g.186508173_186508175del g.186790384_186790386del - - RFC4_000009 - PubMed: Morimoto 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat7 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected parents F - Japan - - - - - 1 Johan den Dunnen
+?/. - c.841T>C r.(?) p.(Cys281Arg) Both (homozygous) - likely pathogenic (recessive) g.186508156A>G g.186790367A>G - - RFC4_000008 - PubMed: Morimoto 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat3 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Guatemala - - - - - 1 Johan den Dunnen
+?/. - c.907_909del r.(?) p.(Ala303del) Parent #2 - likely pathogenic (recessive) g.186508021_186508023del g.186790232_186790234del - - RFC4_000007 - PubMed: Morimoto 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat6 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected parents M - Japan - - - - - 1 Johan den Dunnen
+?/. - c.947_950del r.(?) p.(Glu316ValfsTer22) Maternal (inferred) - likely pathogenic (recessive) g.186507977_186507980del g.186790188_186790191del - - RFC4_000006 - PubMed: Morimoto 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat4 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier father M - India - 00y07m - - - 1 Johan den Dunnen
+?/. - c.980_982dup r.(?) p.(Ile327dup) Paternal (confirmed) - likely pathogenic (recessive) g.186507946_186507948dup g.186790157_186790159dup - - RFC4_000005 - PubMed: Morimoto 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - trio WES ? Pat2 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - 36y - - - 1 Johan den Dunnen
+/. - c.982_983insACT r.(?) p.(Thr328delinsAsnSer) Maternal (confirmed) - pathogenic (recessive) g.186507944_186507945insAGT g.186790155_186790156insAGT - - RFC4_000013 - Lauerova, submitted 2024 - - Germline yes - - - - DNA SEQ-NG - - MYOP - Lauerova, submitted 2024 - M - Ukraine white - - - - 1 Barbora Lauerova
+/. - c.982_983insACT r.(?) p.(Thr328delinsAsnSer) Maternal (confirmed) - pathogenic (recessive) g.186507944_186507945insAGT g.186790155_186790156insAGT - - RFC4_000013 - Lauerova, submitted 2024 - - Germline - - - - - DNA SEQ-NG - - MYOP - Lauerova, submitted 2024 - M - Ukraine - - - - - 1 Barbora Lauerova
+?/. 10i c.996+2dup r.[802_882del,883_996del,802_996del] p.[Val268_Lys294del,Asp295_Ala332del,Val268_Ala332del] Maternal (confirmed) - likely pathogenic (recessive) g.186507929dup g.186790140dup - - RFC4_000004 - PubMed: Morimoto 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - trio WES ? Pat1 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - - - 49y - - - 1 Johan den Dunnen
+?/. 10i c.996+2dup r.[(802_882del,883_996del,802_996del)] p.[(Val268_Lys294del,Asp295_Ala332del,Val268_Ala332del)] Maternal (confirmed) - likely pathogenic (recessive) g.186507929dup g.186790140dup - - RFC4_000004 - PubMed: Morimoto 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat5 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - - Europe 08y06m - - - 1 Johan den Dunnen
+?/. 10i c.996+2dup r.[(802_882del,883_996del,802_996del)] p.[(Val268_Lys294del,Asp295_Ala332del,Val268_Ala332del)] Maternal (confirmed) - likely pathogenic (recessive) g.186507929dup g.186790140dup - - RFC4_000004 - PubMed: Morimoto 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - trio WES ? FamPat8 PubMed: Morimoto 2024 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F - - - 7m - - - 2 Johan den Dunnen
+?/. 10i c.996+2dup r.[(802_882del,883_996del,802_996del)] p.[(Val268_Lys294del,Asp295_Ala332del,Val268_Ala332del)] Maternal (confirmed) - likely pathogenic (recessive) g.186507929dup g.186790140dup - - RFC4_000004 - PubMed: Morimoto 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - trio WES ? FamPat9 PubMed: Morimoto 2024 brother M - - - 8m - - - 1 Johan den Dunnen
+/. - c.1019_1020insCAAA r.(?) p.(Gly341Lysfs*4) Paternal (confirmed) - pathogenic (recessive) g.186507831_186507832insTTGT g.186790042_186790043insTTGT - - RFC4_000012 - Lauerova, submitted 2024 - - Germline yes - - - - DNA SEQ-NG - - MYOP - Lauerova, submitted 2024 - M - Ukraine white - - - - 1 Barbora Lauerova
+/. - c.1019_1020insCAAA r.(?) p.(Gly341Lysfs*4) Paternal (confirmed) - pathogenic (recessive) g.186507831_186507832insTTGT g.186790042_186790043insTTGT - - RFC4_000012 - Lauerova, submitted 2024 - - Germline yes - - - - DNA SEQ-NG - - MYOP - Lauerova, submitted 2024 - M - Ukraine - - - - - 1 Barbora Lauerova
+?/. - c.1030G>A r.(?) p.(Glu344Lys) Paternal (confirmed) - likely pathogenic (recessive) g.186507820C>T g.186790031C>T - - RFC4_000003 - PubMed: Morimoto 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - trio WES ? Pat1 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - - - 49y - - - 1 Johan den Dunnen
+?/. - c.1064_1065del r.(?) p.(Val355AspfsTer11) Paternal (confirmed) - likely pathogenic (recessive) g.186507787_186507788del g.186789998_186789999del - - RFC4_000002 - PubMed: Morimoto 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat4 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier father M - India - 00y07m - - - 1 Johan den Dunnen
+?/. - c.1064_1065del r.(?) p.(Val355AspfsTer11) Paternal (confirmed) - likely pathogenic (recessive) g.186507787_186507788del g.186789998_186789999del - - RFC4_000002 - PubMed: Morimoto 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - trio WES ? FamPat8 PubMed: Morimoto 2024 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F - - - 7m - - - 2 Johan den Dunnen
+?/. - c.1064_1065del r.(?) p.(Val355AspfsTer11) Paternal (confirmed) - likely pathogenic (recessive) g.186507787_186507788del g.186789998_186789999del - - RFC4_000002 - PubMed: Morimoto 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - trio WES ? FamPat9 PubMed: Morimoto 2024 brother M - - - 8m - - - 1 Johan den Dunnen
?/. - c.*749T>G r.(=) p.(=) Unknown - VUS g.186507009A>C - EIF4A2(NM_001967.4):c.1175A>C (p.Y392S) - EIF4A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2791G>C r.(=) p.(=) Unknown - VUS g.186504967C>G - - - EIF4A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2826_*2827del r.(=) p.(=) Unknown - pathogenic g.186504933_186504934del - - - EIF4A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2850G>A r.(=) p.(=) Unknown - likely benign g.186504908C>T - EIF4A2(NM_001967.4):c.772-8C>T - EIF4A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3319G>A r.(=) p.(=) Unknown - likely benign g.186504439C>T - EIF4A2(NM_001967.4):c.771+5C>T - EIF4A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*3351_*3354del r.(=) p.(=) Unknown - likely pathogenic g.186504406_186504409del - - - EIF4A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3367G>A r.(=) p.(=) Unknown - VUS g.186504391C>T g.186786602C>T - - EIF4A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4927T>C r.(=) p.(=) Unknown - VUS g.186502831A>G - - - EIF4A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5372C>A r.(=) p.(=) Unknown - VUS g.186502386G>T - EIF4A2(NM_001967.4):c.109G>T (p.(Asp37Tyr)) - EIF4A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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