Full data view for gene RBPJ

Information The variants shown are described using the NM_005349.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.-110261C>T r.(?) p.(=) Unknown - likely benign g.26211307C>T - RBPJ(NM_001374401.1):c.-167+46071C>T - RBPJ_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-58+8G>A r.(=) p.(=) Unknown - likely benign g.26321518G>A g.26319896G>A RBPJ(NM_005349.3):c.-58+8G>A - RBPJ_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-57-2A>C r.spl? p.? Unknown - likely benign g.26322320A>C - RBPJ(NM_001374400.1):c.-57-2A>C, RBPJ(NM_005349.3):c.-57-2A>C - RBPJ_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-57-2A>C r.spl? p.? Unknown - likely benign g.26322320A>C - RBPJ(NM_001374400.1):c.-57-2A>C, RBPJ(NM_005349.3):c.-57-2A>C - RBPJ_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.59+1G>A r.spl? p.? Unknown - VUS g.26322438G>A g.26320816G>A - - RBPJ_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60-26407G>A r.(=) p.(=) Parent #1 - benign g.26361568G>A g.26359946G>A - - RBPJ_000006 32 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73245775 Germline - 32/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 32 Mohammed Faruq
-/. - c.60-26407G>A r.(=) p.(=) Both (homozygous) - benign g.26361568G>A g.26359946G>A - - RBPJ_000006 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73245775 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.60-23737C>T r.(=) p.(=) Unknown - likely benign g.26364238C>T - RBPJ(NM_203284.2):c.5C>T (p.(Ala2Val)) - RBPJ_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.85A>G r.(?) p.(Lys29Glu) Unknown - likely benign g.26388000A>G - RBPJ(NM_015874.4):c.46A>G (p.(Lys16Glu)) - RBPJ_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.188A>G r.(?) p.(Glu63Gly) Unknown - pathogenic g.26407886A>G g.26406264A>G - - RBPJ_000001 - PubMed: Hassed 2012, Journal: Hassed 2012, OMIM:var0001 - rs387907270 Unknown yes - - - - DNA SEQ, SEQ-NG - - AOS - PubMed: Hassed 2012, Journal: Hassed 2012 3-generation family, affected father/daugther (III.1) F no United States - - - - - 2 Johan den Dunnen
-/. - c.234T>C r.(?) p.(Ser78=) Unknown - benign g.26417136T>C g.26415514T>C RBPJ(NM_203284.3):c.192T>C (p.S64=) - RBPJ_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.505A>G r.(?) p.(Lys169Glu) Paternal (inferred) - pathogenic g.26422317A>G g.26420695A>G - - RBPJ_000002 - PubMed: Hassed 2012, Journal: Hassed 2012, OMIM:var0002 - rs387907271 Germline yes - - - - DNA SEQ, SEQ-NG - - AOS - PubMed: Hassed 2012, Journal: Hassed 2012 3-generation family, 8 affecteds (4F, 4M), patient II.3 F no United States - - - - - 8 Johan den Dunnen
?/. - c.835C>T r.(?) p.(Pro279Ser) Unknown - VUS g.26430390C>T - RBPJ(NM_005349.4):c.835C>T (p.P279S) - RBPJ_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.928-5A>G r.spl? p.? Unknown - likely benign g.26431515A>G - RBPJ(NM_015874.6):c.889-5A>G - RBPJ_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046C>T r.(?) p.(Ala349Val) Unknown - likely benign g.26431638C>T - RBPJ(NM_005349.3):c.1046C>T (p.(Ala349Val)) - RBPJ_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1048C>A r.(?) p.(Pro350Thr) Unknown - VUS g.26431640C>A - RBPJ(NM_005349.4):c.1048C>A (p.P350T) - RBPJ_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1371A>G r.(?) p.(Ala457=) Unknown - likely benign g.26432497A>G g.26430875A>G RBPJ(NM_203284.2):c.1329A>G (p.A443=) - RBPJ_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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