All transcript variants in gene RBP4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006744.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
?/? 1 c.-679G>A - r.(=) p.(=) g.95361588C>T g.93601831C>T - - RBP4_000006 - - - rs3758539 Germline - - - 0 - Carolina Lemos
?/? 1 c.-679G>A - r.(=) p.(=) g.95361588C>T g.93601831C>T - - RBP4_000006 - - - rs3758539 Germline - - - 0 - Carolina Lemos
-/. - c.50G>T benign r.(?) p.(Arg17Leu) g.95360736C>A - RBP4(NM_006744.3):c.50G>T (p.R17L) - RBP4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.172A>G VUS r.(?) p.(Asn58Asp) g.95360500T>C - RBP4(NM_001323517.1):c.172A>G (p.N58D) - RBP4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.333A>G likely benign r.(?) p.(=) g.95360172T>C - RBP4(NM_001323517.1):c.333A>G (p.V111=) - RBP4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/? 4i c.355+1697A>G - r.(=) p.(=) g.95358453T>C g.93598696T>C - - RBP4_000005 - - - rs28383574 Germline - - - 0 - Carolina Lemos
?/? 4i c.355+1697A>G - r.(=) p.(=) g.95358453T>C g.93598696T>C - - RBP4_000005 - - - rs28383574 Germline - - - 0 - Carolina Lemos
?/? 4i c.355+3045T>C - r.(=) p.(=) g.95357105A>G g.93597348A>G - - RBP4_000004 - - - rs11187545 Germline - - - 0 - Carolina Lemos
?/? 4i c.355+3045T>C - r.(=) p.(=) g.95357105A>G g.93597348A>G - - RBP4_000004 - - - rs11187545 Germline - - - 0 - Carolina Lemos
?/? 4i c.356-1825C>T - r.(=) p.(=) g.95355617G>A g.93595860G>A - - RBP4_000003 - - - rs7094671 Germline - - - 0 - Carolina Lemos
?/? 4i c.356-1825C>T - r.(=) p.(=) g.95355617G>A g.93595860G>A - - RBP4_000003 - - - rs7094671 Germline - - - 0 - Carolina Lemos
?/? 4i c.356-1606C>T - r.(=) p.(=) g.95355398G>A g.93595641G>A - - RBP4_000002 - - - rs7091052 Germline - - - 0 - Carolina Lemos
?/? 4i c.356-1606C>T - r.(=) p.(=) g.95355398G>A g.93595641G>A - - RBP4_000002 - - - rs7091052 Germline - - - 0 - Carolina Lemos
-?/. - c.471G>A likely benign r.(?) p.(=) g.95353677C>T - RBP4(NM_006744.3):c.471G>A (p.R157=) - RBP4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.480C>T benign r.(?) p.(=) g.95353668G>A - RBP4(NM_006744.3):c.480C>T (p.N160=) - RBP4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.544C>A VUS r.(?) p.(Gln182Lys) g.95353604G>T - RBP4(NM_006744.3):c.544C>A (p.Q182K) - RBP4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/? 5i c.568+268T>C - r.(=) p.(=) g.95353312A>G g.93593555A>G - - RBP4_000001 - - - rs17484721 Germline - - - 0 - Carolina Lemos
?/? 5i c.568+268T>C - r.(=) p.(=) g.95353312A>G g.93593555A>G - - RBP4_000001 - - - rs17484721 Germline - - - 0 - Carolina Lemos
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