All transcript variants in gene PRRC2A

Information The variants shown are described using the NM_080686.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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     
-?/. - c.-4519C>A likely benign r.(?) p.(=) g.31584180C>A - AIF1(NM_001623.3):c.256C>A (p.(Leu86Ile), p.(Leu98Ile), p.(Leu32Ile)) - AIF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-4426A>T likely benign r.(?) p.(=) g.31584273A>T - AIF1(NM_001623.3):c.349A>T (p.(Ile117Phe), p.(Ile129Phe), p.(Ile63Phe)) - AIF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.397C>G likely benign r.(?) p.(Pro133Ala) g.31592233C>G - PRRC2A(NM_004638.3):c.397C>G (p.(Pro133Ala)) - PRRC2A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2811C>G likely benign r.(?) p.(Ile937Met) g.31599261C>G - PRRC2A(NM_004638.3):c.2811C>G (p.(Ile937Met)) - PRRC2A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2961C>G likely benign r.(?) p.(=) g.31599411C>G - PRRC2A(NM_004638.3):c.2961C>G (p.T987=) - PRRC2A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3536_3538del likely benign r.(?) p.(Pro1179del) g.31599986_31599988del - PRRC2A(NM_004638.3):c.3536_3538delCTC (p.P1179del) - PRRC2A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.3536_3538del benign r.(?) p.(Pro1179del) g.31599986_31599988del - PRRC2A(NM_004638.3):c.3536_3538delCTC (p.P1179del) - PRRC2A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3563C>T likely benign r.(?) p.(Pro1188Leu) g.31600013C>T - PRRC2A(NM_004638.3):c.3563C>T (p.(Pro1188Leu)) - PRRC2A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.5297A>G likely benign r.(?) p.(Asp1766Gly) g.31603045A>G - PRRC2A(NM_004638.3):c.5297A>G (p.(Asp1766Gly)) - BAG6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.6041C>T likely benign r.(?) p.(Pro2014Leu) g.31604616C>T - PRRC2A(NM_004638.3):c.6041C>T (p.(Pro2014Leu)) - BAG6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.6223C>T likely benign r.(?) p.(Arg2075Trp) g.31604894C>T - PRRC2A(NM_004638.3):c.6223C>T (p.(Arg2075Trp)) - PRRC2A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.6248T>C likely benign r.(?) p.(Phe2083Ser) g.31605016T>C - PRRC2A(NM_004638.3):c.6248T>C (p.(Phe2083Ser)) - PRRC2A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*4266C>T VUS r.(=) p.(=) g.31609629C>T - BAG6(NM_004639.3):c.2339G>A (p.R780Q) - BAG6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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