Unique variants in the CHCHD10 gene

Information The variants shown are described using the NM_213720.1 transcript reference sequence.

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

Reported     

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     
?/. 1 - c.16C>G r.(?) p.(Arg6Gly) - VUS g.24110046G>C - CHCHD10(NM_001301339.2):c.16C>G (p.R6G) - C22orf15_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 3 - c.41+7G>A r.(=) p.(=) - likely benign g.24110014C>T g.23767827C>T CHCHD10(NM_001301339.1):c.41+7G>A, CHCHD10(NM_001301339.2):c.41+7G>A - C22orf15_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.42-7C>G r.(=) p.(=) - likely benign g.24109787G>C g.23767600G>C CHCHD10(NM_001301339.2):c.42-7C>G - CHCHD10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.48A>C r.(?) p.(Pro16=) - benign g.24109774T>G g.23767587T>G CHCHD10(NM_001301339.2):c.48A>C (p.P16=) - CHCHD10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.75G>T r.(?) p.(Ala25=) - likely benign g.24109747C>A g.23767560C>A CHCHD10(NM_001301339.2):c.75G>T (p.A25=) - C22orf15_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.100C>T r.(?) p.(Pro34Ser) - likely benign g.24109722G>A g.23767535G>A CHCHD10(NM_001301339.2):c.100C>T (p.P34S) - CHCHD10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.114T>A r.(?) p.(Pro38=) - likely benign g.24109708A>T g.23767521A>T CHCHD10(NM_001301339.2):c.114T>A (p.P38=) - CHCHD10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.119G>A r.(?) p.(Gly40Asp) - benign g.24109703C>T g.23767516C>T CHCHD10(NM_001301339.2):c.119G>A (p.G40D) - CHCHD10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.171G>A r.(?) p.(Val57=) - benign g.24109651C>T g.23767464C>T CHCHD10(NM_001301339.2):c.171G>A (p.V57=) - CHCHD10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.215C>T r.(?) p.(Ala72Val) - VUS g.24109607G>A - CHCHD10(NM_001301339.1):c.215C>T (p.A72V) - C22orf15_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.234G>A r.(?) p.(Ser78=) - benign g.24109588C>T g.23767401C>T CHCHD10(NM_001301339.2):c.234G>A (p.S78=) - CHCHD10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-/. 3 - c.261+11A>G r.(=) p.(=) - benign g.24109550T>C g.23767363T>C CHCHD10(NM_001301339.2):c.261+11A>G - CHCHD10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.262-4C>T r.spl? p.? - likely benign g.24108466G>A g.23766279G>A CHCHD10(NM_001301339.1):c.279C>T (p.P93=) - C22orf15_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.274G>C r.(?) p.(Ala92Pro) - likely benign g.24108450C>G g.23766263C>G CHCHD10(NM_001301339.2):c.295G>C (p.A99P) - C22orf15_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.286C>A r.(?) p.(Pro96Thr) - likely benign g.24108438G>T g.23766251G>T CHCHD10(NM_001301339.2):c.307C>A (p.P103T) - CHCHD10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.312C>G r.(?) p.(Tyr104*) - likely pathogenic g.24108412G>C g.23766225G>C - - CHCHD10_000001 - - - - Unknown - - - - - IMGAG
-/. 3 - c.312C>T r.(?) p.(Tyr104=) - benign g.24108412G>A g.23766225G>A CHCHD10(NM_001301339.2):c.333C>T (p.Y111=) - CHCHD10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.396del r.(?) p.(Cys132Ter) - VUS g.24108328del g.23766141del CHCHD10(NM_001301339.2):c.417delC (p.C139*) - C22orf15_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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