Full data view for gene RENBP

Information The variants shown are described using the NM_002910.5 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.-399844_*489933dup r.0? p.0? Maternal (confirmed) - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - 2 Johan den Dunnen
-?/. - c.-5017C>T r.(?) p.(=) Unknown - likely benign g.153215079G>A g.153949628G>A HCFC1(NM_005334.3):c.6005-12C>T - HCFC1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4748C>T r.(?) p.(=) Unknown - likely benign g.153214810G>A g.153949359G>A HCFC1(NM_005334.2):c.6096C>T (p.A2032=) - HCFC1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4747G>A r.(?) p.(=) Unknown - VUS g.153214809C>T g.153949358C>T HCFC1(NM_005334.2):c.6097G>A (p.(Asp2033Asn)) - HCFC1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-134_-133insGC r.(?) p.(=) Maternal (inferred) - VUS g.153210195_153210196insGC g.153944743_153944744insGC - - RENBP_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-134_-133insGC r.(?) p.(=) Maternal (inferred) - VUS g.153210195_153210196insGC g.153944743_153944744insGC - - RENBP_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.29A>G r.(?) p.(Asp10Gly) Unknown - benign g.153209869T>C g.153944417T>C RENBP(NM_002910.5):c.29A>G (p.(Asp10Gly)), RENBP(NM_002910.6):c.29A>G (p.D10G) - HCFC1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.29A>G r.(?) p.(Asp10Gly) Unknown - likely benign g.153209869T>C g.153944417T>C RENBP(NM_002910.5):c.29A>G (p.(Asp10Gly)), RENBP(NM_002910.6):c.29A>G (p.D10G) - HCFC1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162C>T r.(?) p.(Arg54=) Unknown - likely benign g.153209583G>A - RENBP(NM_002910.5):c.162C>T (p.R54=) - HCFC1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.519G>A r.(?) p.(Ser173=) Unknown - likely benign g.153208475C>T - RENBP(NM_002910.5):c.519G>A (p.S173=) - HCFC1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.632G>C r.(?) p.(Gly211Ala) Unknown - likely benign g.153208362C>G g.153942910C>G RENBP(NM_002910.5):c.632G>C (p.G211A) - HCFC1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.687+109dup r.(=) p.(=) Maternal (inferred) - VUS g.153208200dup g.153942748dup - - RENBP_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.687+109dup r.(=) p.(=) Maternal (inferred) - VUS g.153208200dup g.153942748dup - - RENBP_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.687+109dup r.(=) p.(=) Maternal (inferred) - VUS g.153208200dup g.153942748dup - - RENBP_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.687+109dup r.(=) p.(=) Maternal (inferred) - VUS g.153208200dup g.153942748dup - - RENBP_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.769+2T>G r.spl? p.? Unknown - VUS g.153207401A>C g.153941948A>C RENBP(NM_002910.5):c.769+2T>G (p.?) - RENBP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.769+2T>G r.spl? p.? Unknown - likely benign g.153207401A>C g.153941948A>C RENBP(NM_002910.5):c.769+2T>G (p.?) - RENBP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.769+4A>G r.spl? p.? Unknown - likely benign g.153207399T>C g.153941946T>C RENBP(NM_002910.5):c.769+4A>G (p.?) - RENBP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.825C>T r.(?) p.(Asp275=) Unknown - likely benign g.153207051G>A g.153941598G>A RENBP(NM_002910.5):c.825C>T (p.D275=) - RENBP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.828C>G r.(?) p.(Pro276=) Unknown - likely benign g.153207048G>C - RENBP(NM_002910.5):c.828C>G (p.P276=) - RENBP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1020T>G r.(?) p.(Ser340Arg) Unknown - likely benign g.153205612A>C - RENBP(NM_002910.5):c.1020T>G (p.(Ser340Arg)) - RENBP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1166-4G>A r.spl? p.? Unknown - VUS g.153200861C>T g.153935408C>T RENBP(NM_002910.5):c.1166-4G>A (p.?) - RENBP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*821T>G r.(=) p.(=) Unknown - VUS g.153199918A>C g.153934465A>C NAA10(NM_003491.3):c.32T>G (p.L11R) - RENBP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*824T>G r.(=) p.(=) Unknown - VUS g.153199915A>C - - - RENBP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*881A>G r.(=) p.(=) Unknown - VUS g.153199858T>C g.153934405T>C - - NAA10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2725C>T r.(=) p.(=) Unknown - likely benign g.153198014G>A g.153932561G>A - - NAA10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2864C>T r.(=) p.(=) Unknown - VUS g.153197875G>A g.153932422G>A - - RENBP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2876C>T r.(=) p.(=) Unknown - pathogenic g.153197863G>A g.153932410G>A NAA10(NM_003491.3):c.247C>T (p.R83C), NAA10(NM_003491.4):c.247C>T (p.R83C) - NAA10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2876C>T r.(=) p.(=) Unknown - pathogenic g.153197863G>A g.153932410G>A NAA10(NM_003491.3):c.247C>T (p.R83C), NAA10(NM_003491.4):c.247C>T (p.R83C) - NAA10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2876C>T r.(=) p.(=) Unknown - pathogenic g.153197863G>A g.153932410G>A NAA10(NM_003491.3):c.247C>T (p.R83C), NAA10(NM_003491.4):c.247C>T (p.R83C) - NAA10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2876C>T r.(=) p.(=) Unknown - pathogenic g.153197863G>A - NAA10(NM_003491.3):c.247C>T (p.R83C), NAA10(NM_003491.4):c.247C>T (p.R83C) - NAA10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3166T>C r.(=) p.(=) Unknown - likely benign g.153197573A>G g.153932120A>G NAA10(NM_003491.3):c.342-5T>C - RENBP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3175C>T r.(=) p.(=) Unknown - pathogenic g.153197564G>A g.153932111G>A NAA10(NM_003491.4):c.346C>T (p.R116W) - NAA10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3175C>T r.(=) p.(=) Unknown - pathogenic g.153197564G>A g.153932111G>A NAA10(NM_003491.4):c.346C>T (p.R116W) - NAA10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*3175C>T r.(=) p.(=) Unknown - likely pathogenic g.153197564G>A g.153932111G>A NAA10(NM_003491.4):c.346C>T (p.R116W) - NAA10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3213T>G r.(=) p.(=) Unknown - pathogenic g.153197526A>C g.153932073A>C - - RENBP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4464T>C r.(=) p.(=) Unknown - likely pathogenic g.153196275A>G - - - ARHGAP4_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4497C>T r.(=) p.(=) Unknown - VUS g.153196242G>A g.153930789G>A - - ARHGAP4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4530G>A r.(=) p.(=) Unknown - VUS g.153196209C>T g.153930756C>T NAA10(NM_001256119.1):c.426+7G>A (p.(=)), NAA10(NM_003491.3):c.471+7G>A - NAA10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4530G>A r.(=) p.(=) Unknown - likely benign g.153196209C>T g.153930756C>T NAA10(NM_001256119.1):c.426+7G>A (p.(=)), NAA10(NM_003491.3):c.471+7G>A - NAA10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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