All variants in the C10orf137 gene

NOTE: gene name changed from C10orf137 to EDRF1
Information The variants shown are described using the NM_015608.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.-4257566_*7928894dup - - - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. - c.1210A>C r.(?) p.(Thr404Pro) - VUS g.127422239A>C - EDRF1(NM_015608.2):c.1210A>C (p.T404P) - C10orf137_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1409C>A r.(?) p.(Ala470Asp) - VUS g.127424226C>A - EDRF1(NM_015608.2):c.1409C>A (p.A470D) - C10orf137_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.2489-1G>A - - - VUS g.127434275G>A g.125745706G>A NM_001202438.2:c.2591-1G>A (?) - C10orf137_000009 reported as candidate disease gene PubMed: Al-Kasbi 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.2593_2603del r.(?) p.(Ala865IlefsTer3) - VUS g.127434380_127434390del g.125745811_125745821del EDRF1(NM_001202438.2):c.2695_2705delGCCGCCCTTTT (p.A899Ifs*3) - C10orf137_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3055G>A r.(?) p.(Val1019Met) - likely benign g.127438014G>A - EDRF1(NM_015608.2):c.3055G>A (p.V1019M) - C10orf137_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3292-6T>C r.(=) p.(=) - likely benign g.127442257T>C g.125753688T>C EDRF1(NM_001202438.1):c.3394-6T>C (p.(=)) - C10orf137_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*3356T>C r.(=) p.(=) - VUS g.127455397T>C - MMP21(NM_147191.1):c.1544A>G (p.Y515C) - C10orf137_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*4089T>C r.(=) p.(=) - benign g.127456130T>C - MMP21(NM_147191.1):c.1381A>G (p.K461E) - MMP21_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.*4098G>A r.(=) p.(=) - likely pathogenic g.127456139G>A g.125767570G>A MMP21(NM_147191.1):c.1372C>T (p.(Arg458Ter), p.R458*) - C10orf137_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.*4098G>A r.(=) p.(=) - pathogenic g.127456139G>A g.125767570G>A MMP21(NM_147191.1):c.1372C>T (p.(Arg458Ter), p.R458*) - C10orf137_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*4098G>A r.(=) p.(=) - pathogenic g.127456139G>A - MMP21(NM_147191.1):c.1372C>T (p.(Arg458Ter), p.R458*) - C10orf137_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*4109G>A r.(=) p.(=) - benign g.127456150G>A g.125767581G>A MMP21(NM_147191.1):c.1361C>T (p.(Ala454Val)) - C10orf137_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*4109G>A r.(=) p.(=) - likely benign g.127456150G>A - MMP21(NM_147191.1):c.1361C>T (p.(Ala454Val)) - C10orf137_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*4199T>A r.(=) p.(=) - VUS g.127456240T>A - MMP21(NM_147191.1):c.1271A>T (p.(Asp424Val)) - C10orf137_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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