Full data view for gene PROP1

Information The variants shown are described using the NM_006261.4 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.27T>C r.(?) p.(Ala9=) Unknown - benign g.177422908A>G g.177995907A>G PROP1(NM_006261.5):c.27T>C (p.A9=) - PROP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.27T>C r.(?) p.(Ala9=) Unknown - benign g.177422908A>G g.177995907A>G PROP1(NM_006261.5):c.27T>C (p.A9=) - PROP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.52G>A r.(?) p.(Gly18Ser) Unknown - likely benign g.177422883C>T g.177995882C>T PROP1(NM_006261.4):c.52G>A (p.(Gly18Ser)) - PROP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59= r.(=) p.(Ser20=) Unknown - benign g.177422876T>C g.177995875T>C PROP1(NM_006261.5):c.59A>G (p.N20S) - PROP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59= r.(=) p.(Ser20=) Unknown - benign g.177422876T>C g.177995875T>C PROP1(NM_006261.5):c.59A>G (p.N20S) - PROP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.80C>T r.(?) p.(Pro27Leu) Unknown - likely benign g.177422855G>A g.177995854G>A PROP1(NM_006261.4):c.80C>T (p.(Pro27Leu)) - PROP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.94_95dup r.(?) p.(Thr33Argfs*133) Unknown - pathogenic g.177422842_177422843dup - - - PROP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.96G>A r.(?) p.(=) Unknown - likely benign g.177422839C>T - PROP1(NM_006261.5):c.96G>A (p.P32=) - PROP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.109+3G>A r.spl? p.? Unknown - benign g.177422823C>T g.177995822C>T PROP1(NM_006261.5):c.109+3G>A - PROP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.109+3G>A r.spl? p.? Unknown - benign g.177422823C>T - PROP1(NM_006261.5):c.109+3G>A - PROP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.109+5G>T r.spl? p.? Unknown - likely pathogenic g.177422821C>A g.177995820C>A PROP1(NM_006261.5):c.109+5G>T - PROP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.109+11G>A r.(=) p.(=) Unknown - benign g.177422815C>T g.177995814C>T PROP1(NM_006261.5):c.109+11G>A - PROP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.150del r.(?) p.(Arg53AspfsTer112) Unknown - pathogenic g.177421299del g.177994298del PROP1(NM_006261.4):c.150delA (p.R53Dfs*112) - PROP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.152G>C r.(?) p.(Gly51Ala) Unknown - likely benign g.177421297C>G g.177994296C>G PROP1(NM_006261.4):c.152G>C (p.(Gly51Ala), p.G51A), PROP1(NM_006261.5):c.152G>C (p.G51A) - PROP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.152G>C r.(?) p.(Gly51Ala) Unknown - likely benign g.177421297C>G - PROP1(NM_006261.4):c.152G>C (p.(Gly51Ala), p.G51A), PROP1(NM_006261.5):c.152G>C (p.G51A) - PROP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.152G>C r.(?) p.(Gly51Ala) Unknown - benign g.177421297C>G - PROP1(NM_006261.4):c.152G>C (p.(Gly51Ala), p.G51A), PROP1(NM_006261.5):c.152G>C (p.G51A) - PROP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.173C>T r.(?) p.(Pro58Leu) Unknown - likely benign g.177421276G>A - PROP1(NM_006261.4):c.173C>T (p.(Pro58Leu)) - PROP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.174G>A r.(?) p.(Pro58=) Unknown - benign g.177421275C>T g.177994274C>T PROP1(NM_006261.5):c.174G>A (p.P58=) - PROP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.179G>A r.(?) p.(Gly60Glu) Unknown - VUS g.177421270C>T - PROP1(NM_006261.4):c.179G>A (p.(Gly60Glu)) - PROP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.201C>A r.(?) p.(His67Gln) Unknown - VUS g.177421248G>T - PROP1(NM_006261.5):c.201C>A (p.(His67Gln)) - PROP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206G>A r.(?) p.(Arg69Gln) Unknown - VUS g.177421243C>T - PROP1(NM_006261.5):c.206G>A (p.(Arg69Gln)) - PROP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.217C>T r.(?) p.(Arg73Cys) Unknown - pathogenic g.177421232G>A - PROP1(NM_006261.5):c.217C>T (p.(Arg73Cys)) - PROP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.260C>A r.(?) p.(Ala87Asp) Unknown - VUS g.177421189G>T - PROP1(NM_006261.5):c.260C>A (p.A87D) - PROP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.276G>C r.(?) p.(Gln92His) Unknown - VUS g.177421173C>G - PROP1(NM_006261.5):c.276G>C (p.(Gln92His)) - PROP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.335G>A r.(?) p.(Arg112Gln) Unknown - VUS g.177421114C>T - PROP1(NM_006261.4):c.335G>A (p.(Arg112Gln)) - PROP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.358C>T r.(?) p.(Arg120Cys) Unknown - likely pathogenic g.177420033G>A - PROP1(NM_006261.4):c.358C>T (p.(Arg120Cys)) - PROP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.373C>T r.(?) p.(Arg125Trp) Unknown - VUS g.177420018G>A - PROP1(NM_006261.5):c.373C>T (p.(Arg125Trp)) - PROP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.424G>A r.(?) p.(Ala142Thr) Unknown - benign g.177419967C>T g.177992966C>T PROP1(NM_006261.5):c.424G>A (p.A142T) - PROP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.425C>T r.(?) p.(Ala142Val) Unknown - likely benign g.177419966G>A g.177992965G>A PROP1(NM_006261.4):c.425C>T (p.A142V, p.(Ala142Val)), PROP1(NM_006261.5):c.425C>T (p.A142V) - PROP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.425C>T r.(?) p.(Ala142Val) Unknown - likely benign g.177419966G>A g.177992965G>A PROP1(NM_006261.4):c.425C>T (p.A142V, p.(Ala142Val)), PROP1(NM_006261.5):c.425C>T (p.A142V) - PROP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.425C>T r.(?) p.(Ala142Val) Unknown - likely benign g.177419966G>A - PROP1(NM_006261.4):c.425C>T (p.A142V, p.(Ala142Val)), PROP1(NM_006261.5):c.425C>T (p.A142V) - PROP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.471C>T r.(?) p.(Tyr157=) Unknown - likely benign g.177419920G>A g.177992919G>A PROP1(NM_006261.5):c.471C>T (p.Y157=) - PROP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.513C>T r.(?) p.(Tyr171=) Unknown - likely benign g.177419878G>A - PROP1(NM_006261.5):c.513C>T (p.Y171=) - PROP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.534G>A r.(?) p.(Gln178=) Unknown - likely benign g.177419857C>T g.177992856C>T PROP1(NM_006261.5):c.534G>A (p.Q178=) - PROP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.557C>T r.(?) p.(Ala186Val) Unknown - likely benign g.177419834G>A g.177992833G>A PROP1(NM_006261.4):c.557C>T (p.(Ala186Val)) - PROP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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