All variants in the SRP54 gene

Information The variants shown are described using the NM_003136.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.67A>G r.(?) p.(Ile23Val) - VUS g.35465982A>G - SRP54(NM_003136.4):c.67A>G (p.I23V) - SRP54_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.337G>C r.(?) p.(Gly113Arg) - pathogenic (dominant) g.35476570G>C g.35007364G>C - - SRP54_000005 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.343A>G r.(?) p.(Thr115Ala) - pathogenic (dominant) g.35476576A>G g.35007370A>G - - SRP54_000006 - PubMed: Carapito 2017 - - De novo - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Carapito 2017 - - De novo - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic (dominant) g.35476582_35476584del g.35007376_35007378del - - SRP54_000007 - PubMed: Bellanne-Chantelot 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.349_351del r.(?) p.(Thr117del) - pathogenic g.35476582_35476584del - SRP54(NM_003136.4):c.349_351delACA (p.T117del) - SRP54_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.353G>A r.(?) p.(Cys118Tyr) - pathogenic (dominant) g.35476586G>A g.35007380G>A - - SRP54_000008 - PubMed: Bellanne-Chantelot 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.353G>A r.(?) p.(Cys118Tyr) - pathogenic (dominant) g.35476586G>A g.35007380G>A - - SRP54_000008 - PubMed: Bellanne-Chantelot 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.353G>A r.(?) p.(Cys118Tyr) - pathogenic (dominant) g.35476586G>A g.35007380G>A - - SRP54_000008 - PubMed: Bellanne-Chantelot 2018 - - Germline - - - - - Johan den Dunnen
-?/. - c.374A>T r.(?) p.(Tyr125Phe) - likely benign g.35477846A>T - SRP54(NM_001146282.1):c.227A>T (p.Y76F) - SRP54_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.407G>A r.(?) p.(Cys136Tyr) - pathogenic (dominant) g.35477879G>A g.35008673G>A - - SRP54_000009 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.407G>A r.(?) p.(Cys136Tyr) - pathogenic (dominant) g.35477879G>A g.35008673G>A - - SRP54_000009 - PubMed: Bellanne-Chantelot 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.420C>A r.(?) p.(Phe140Leu) - VUS g.35477892C>A - SRP54(NM_003136.4):c.420C>A (p.(Phe140Leu)) - SRP54_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.524G>A r.(?) p.(Gly175Glu) - likely pathogenic g.35480753G>A - - - SRP54_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.636A>C r.(?) p.(=) - likely benign g.35480865A>C - SRP54(NM_003136.4):c.636A>C (p.I212=) - SRP54_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.668C>A r.(?) p.(Ala223Asp) - pathogenic (dominant) g.35482583C>A g.35013377C>A - - SRP54_000010 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.677G>A r.(?) p.(Gly226Glu) - pathogenic (dominant) g.35482592G>A g.35013386G>A - - SRP54_000011 - PubMed: Carapito 2017 - - De novo - - - - - Johan den Dunnen
+/. - c.677G>A r.(?) p.(Gly226Glu) - pathogenic (dominant) g.35482592G>A g.35013386G>A - - SRP54_000011 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
-?/. - c.817A>G r.(?) p.(Ile273Val) - likely benign g.35483039A>G - SRP54(NM_003136.4):c.817A>G (p.(Ile273Val)) - SRP54_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.821G>A r.(?) p.(Gly274Asp) - pathogenic (dominant) g.35483043G>A g.35013837G>A - - SRP54_000012 - PubMed: Bellanne-Chantelot 2018 - - De novo - - - - - Johan den Dunnen
?/. - c.878A>G r.(?) p.(Lys293Arg) - VUS g.35483100A>G - SRP54(NM_003136.3):c.878A>G (p.(Lys293Arg)) - SRP54_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.886+3A>C r.spl? p.? - VUS g.35483111A>C - SRP54(NM_003136.4):c.886+3A>C - SRP54_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.894C>T r.(?) p.(Gly298=) - likely benign g.35483957C>T g.35014751C>T SRP54(NM_001146282.1):c.747C>T (p.G249=) - SRP54_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1328-9_1328-8insTC r.(=) p.(=) - likely benign g.35497285_35497286insTC - SRP54(NM_003136.4):c.1328-9_1328-8insTC - SRP54_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1328-3C>T r.spl? p.? - likely benign g.35497291C>T - SRP54(NM_003136.4):c.1328-3C>T - SRP54_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1328G>A r.(?) p.(Gly443Asp) - VUS g.35497294G>A - SRP54(NM_003136.4):c.1328G>A (p.(Gly443Asp)) - SRP54_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1332C>T r.(?) p.(Gly444=) - likely benign g.35497298C>T g.35028092C>T SRP54(NM_003136.4):c.1332C>T (p.G444=) - SRP54_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1340C>G r.(?) p.(Ser447Cys) - VUS g.35497306C>G g.35028100C>G SRP54(NM_001146282.1):c.1193C>G (p.S398C) - SRP54_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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