All variants in the C9 gene

Information The variants shown are described using the NM_001737.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.13C>T r.(?) p.(Arg5Trp) - benign g.39364554G>A g.39364452G>A C9(NM_001737.3):c.13C>T (p.R5W) - C9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.13C>T r.(?) p.(Arg5Trp) - benign g.39364554G>A - C9(NM_001737.3):c.13C>T (p.R5W) - C9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.72G>T r.(?) p.(Thr24=) - likely benign g.39364495C>A g.39364393C>A C9(NM_001737.3):c.72G>T (p.T24=) - C9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.77+16T>C r.(=) p.(=) - benign g.39364474A>G g.39364372A>G - - C9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.78-10G>A r.(=) p.(=) - benign g.39342308C>T g.39342206C>T C9(NM_001737.3):c.78-10G>A - C9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.78-10G>A r.(=) p.(=) - benign g.39342308C>T - C9(NM_001737.3):c.78-10G>A - C9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.133A>T r.(?) p.(Met45Leu) - likely benign g.39342243T>A g.39342141T>A C9(NM_001737.3):c.133A>T (p.M45L) - C9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.133A>T r.(?) p.(Met45Leu) - likely benign g.39342243T>A g.39342141T>A C9(NM_001737.3):c.133A>T (p.M45L) - C9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.162C>T r.(?) p.(Cys54=) - likely benign g.39342214G>A g.39342112G>A C9(NM_001737.3):c.162C>T (p.C54=) - C9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.162C>T r.(?) p.(Cys54=) - likely benign g.39342214G>A g.39342112G>A C9(NM_001737.3):c.162C>T (p.C54=) - C9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.163G>C r.(?) p.(Asp55His) - VUS g.39342213C>G g.39342111C>G C9(NM_001737.3):c.163G>C (p.D55H) - C9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.185T>C r.(?) p.(Phe62Ser) - VUS g.39341801A>G g.39341699A>G C9(NM_001737.3):c.185T>C (p.F62S) - C9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.328+5T>C r.spl? p.? - likely benign g.39341653A>G g.39341551A>G C9(NM_001737.3):c.328+5T>C - C9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.346C>T r.(?) p.(Arg116Ter) - pathogenic g.39341378G>A g.39341276G>A C9(NM_001737.3):c.346C>T (p.R116*) - C9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.355T>G r.(?) p.(Cys119Gly) - VUS g.39341369A>C - C9(NM_001737.3):c.355T>G (p.C119G) - C9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.379G>C r.(?) p.(Asp127His) - VUS g.39341345C>G g.39341243C>G C9(NM_001737.3):c.379G>C (p.D127H) - C9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.387A>C r.(?) p.(Ser129=) - likely benign g.39341337T>G g.39341235T>G C9(NM_001737.3):c.387A>C (p.S129=) - C9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.387A>C r.(?) p.(Ser129=) - likely benign g.39341337T>G g.39341235T>G C9(NM_001737.3):c.387A>C (p.S129=) - C9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.461G>A r.(?) p.(Arg154Gln) - VUS g.39341263C>T - C9(NM_001737.3):c.461G>A (p.R154Q) - C9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.477G>A r.(?) p.(Gly159=) - likely benign g.39331916C>T g.39331814C>T C9(NM_001737.3):c.477G>A (p.G159=) - C9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.499C>T r.(?) p.(Pro167Ser) - VUS g.39331894G>A g.39331792G>A - - C9_000025 risk factor; 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34882957 Germline - 6/2795 individuals - 0 - Mohammed Faruq
-/. - c.607A>G r.(?) p.(Ile203Val) - benign g.39331786T>C g.39331684T>C C9(NM_001737.3):c.607A>G (p.I203V) - C9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.624C>T r.(?) p.(Gly208=) - VUS g.39316123G>A g.39316021G>A C9(NM_001737.3):c.624C>T (p.G208=) - C9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.836C>G r.(?) p.(Thr279Ser) - benign g.39315911G>C g.39315809G>C C9(NM_001737.3):c.836C>G (p.T279S) - C9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.974C>T r.(?) p.(Ala325Val) - VUS g.39311376G>A g.39311274G>A C9(NM_001737.3):c.974C>T (p.A325V) - C9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.992A>G r.(?) p.(Glu331Gly) - likely benign g.39311358T>C g.39311256T>C C9(NM_001737.3):c.992A>G (p.E331G) - C9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1014T>A r.(?) p.(Phe338Leu) - VUS g.39311336A>T g.39311234A>T C9(NM_001737.3):c.1014T>A (p.F338L) - C9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1014T>A r.(?) p.(Phe338Leu) - likely benign g.39311336A>T - C9(NM_001737.3):c.1014T>A (p.F338L) - C9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1345G>A r.(?) p.(Val449Met) - likely benign g.39306790C>T g.39306688C>T C9(NM_001737.3):c.1345G>A (p.V449M) - C9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1345G>A r.(?) p.(Val449Met) - likely benign g.39306790C>T - C9(NM_001737.3):c.1345G>A (p.V449M) - C9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1451T>A r.(?) p.(Met484Lys) - VUS g.39289019A>T g.39288917A>T C9(NM_001737.3):c.1451T>A (p.M484K) - C9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1468A>G r.(?) p.(Lys490Glu) - VUS g.39289002T>C g.39288900T>C C9(NM_001737.3):c.1468A>G (p.K490E) - C9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1645+8C>A r.(=) p.(=) - likely benign g.39288817G>T - C9(NM_001737.3):c.1645+8C>A (p.(=)) - C9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1645+14A>G r.(=) p.(=) - benign g.39288811T>C g.39288709T>C C9(NM_001737.3):c.1645+14A>G - C9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1645+16T>G r.(=) p.(=) - likely benign g.39288809A>C g.39288707A>C C9(NM_001737.3):c.1645+16T>G - C9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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