Full data view for gene CDAN1

Information The variants shown are described using the NM_138477.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.156C>G r.(?) p.(Phe52Leu) Unknown - pathogenic g.43028913G>C g.42736715G>C CDAN1(NM_138477.2):c.156C>G (p.(Phe52Leu)) - CDAN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157C>T r.(?) p.(Leu53=) Unknown - likely benign g.43028912G>A - CDAN1(NM_138477.2):c.157C>T (p.(Leu53=)) - CDAN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.256C>T r.(?) p.(Pro86Ser) Unknown - VUS g.43028813G>A g.42736615G>A CDAN1(NM_138477.2):c.256C>T (p.(Pro86Ser)) - CDAN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.320A>T r.(?) p.(Gln107Leu) Unknown - benign g.43028749T>A g.42736551T>A - - CDAN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.443C>T r.(?) p.(Ala148Val) Unknown - benign g.43028626G>A - CDAN1(NM_138477.2):c.443C>T (p.(Ala148Val)) - CDAN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.477C>T r.(?) p.(Pro159=) Unknown - benign g.43028592G>A g.42736394G>A CDAN1(NM_138477.4):c.477C>T (p.P159=) - CDAN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.477C>T r.(?) p.(Pro159=) Unknown - benign g.43028592G>A g.42736394G>A CDAN1(NM_138477.4):c.477C>T (p.P159=) - CDAN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.558C>G r.(?) p.(Pro186=) Unknown - benign g.43028511G>C - CDAN1(NM_138477.2):c.558C>G (p.(=)) - CDAN1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.570-2A>C r.spl? p.? Unknown - VUS g.43028278T>G - CDAN1(NM_138477.4):c.570-2A>C - CDAN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1141C>T r.(?) p.(Leu381Phe) Unknown - VUS g.43026540G>A - - - CDAN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1435_1437del r.(?) p.(Lys479del) Unknown - VUS g.43025317_43025319del g.42733119_42733121del CDAN1(NM_138477.2):c.1435_1437del (p.?) - CDAN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1524A>G r.(?) p.(Gln508=) Unknown - likely benign g.43024540T>C - CDAN1(NM_138477.2):c.1524A>G (p.(Gln508=)) - CDAN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1787A>G r.(?) p.(Gln596Arg) Unknown - benign g.43023482T>C g.42731284T>C - - CDAN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1791_1792delinsTCTTGCCCTGGGCTTGAAGA r.(?) p.(Glu597_Leu598delinsAspLeuAlaLeuGlyLeuLysIle) Unknown ACMG VUS g.43023477_43023478delinsTCTTCAAGCCCAGGGCAAGA g.42731279_42731280delinsTCTTCAAGCCCAGGGCAAGA - - CDAN1_000026 ACMG: PM4, PM2_SUP, PM3_SUP, PP4 - VCV000517361.1 - Germline ? - - - - DNA SEQ-NG-I - - CDAN1A 171267 - - F no Germany - - - - - 1 Andreas Laner
-?/. - c.1875A>G r.(?) p.(Gln625=) Unknown - likely benign g.43023255T>C g.42731057T>C - - CDAN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1967C>G r.(?) p.(Thr656Ser) Unknown - likely benign g.43023163G>C - CDAN1(NM_138477.2):c.1967C>G (p.(Thr656Ser)) - CDAN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1967C>G r.(?) p.(Thr656Ser) Unknown - likely benign g.43023163G>C - CDAN1(NM_138477.2):c.1967C>G (p.(Thr656Ser)) - CDAN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2140C>T r.(?) p.(Arg714Trp) Unknown ACMG likely pathogenic (recessive) g.43022830G>A - - - CDAN1_000027 ACMG: PS3_MOD, PS4_MOD, PM3, PM2_SUP, PP3 PMID: 12434312, 18575862, 22407294 VCV000021748.3 - Germline ? - - - - DNA SEQ-NG-I - - CDAN1A 171267 - - F no Germany - - - - - 1 Andreas Laner
?/. - c.2164C>T r.(?) p.(Arg722Cys) Unknown - VUS g.43022806G>A g.42730608G>A CDAN1(NM_138477.4):c.2164C>T (p.R722C) - CDAN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2173C>T r.(?) p.(Arg725Trp) Unknown - pathogenic g.43022797G>A - CDAN1(NM_138477.4):c.2173C>T (p.R725W) - CDAN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2174+20G>A r.(=) p.(=) Unknown - likely benign g.43022776C>T - CDAN1(NM_138477.2):c.2174+20G>A (p.(=)) - CDAN1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2352+8C>T r.(=) p.(=) Unknown - benign g.43021986G>A - - - CDAN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2408-3C>T r.spl? p.? Unknown - benign g.43021563G>A g.42729365G>A - - CDAN1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2463G>A r.(?) p.(Gly821=) Unknown - benign g.43021505C>T g.42729307C>T CDAN1(NM_138477.2):c.2463G>A (p.(Gly821=)), CDAN1(NM_138477.4):c.2463G>A (p.G821=) - CDAN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2463G>A r.(?) p.(Gly821=) Unknown - likely benign g.43021505C>T - CDAN1(NM_138477.2):c.2463G>A (p.(Gly821=)), CDAN1(NM_138477.4):c.2463G>A (p.G821=) - CDAN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2542-4C>G r.spl? p.? Unknown - likely benign g.43021328G>C - CDAN1(NM_138477.4):c.2542-4C>G - CDAN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2671C>T r.(?) p.(Arg891Cys) Unknown - benign g.43020983G>A g.42728785G>A - - CDAN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2836C>T r.(?) p.(Arg946Trp) Parent #1 - likely benign g.43020434G>A g.42728236G>A - - CDAN1_000016 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114779238 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-?/. - c.2836C>T r.(?) p.(Arg946Trp) Unknown - likely benign g.43020434G>A - CDAN1(NM_138477.4):c.2836C>T (p.(Arg946Trp)) - CDAN1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3153G>A r.(?) p.(Glu1051=) Unknown - benign g.43018559C>T - CDAN1(NM_138477.2):c.3153G>A (p.(=)) - CDAN1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3153G>A r.(?) p.(Glu1051=) Unknown - benign g.43018559C>T - CDAN1(NM_138477.2):c.3153G>A (p.(=)) - CDAN1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3188C>T r.(?) p.(Thr1063Met) Unknown - likely benign g.43018524G>A g.42726326G>A CDAN1(NM_138477.4):c.3188C>T (p.T1063M) - CDAN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3194G>A r.(?) p.(Arg1065Gln) Unknown - benign g.43018518C>T g.42726320C>T CDAN1(NM_138477.2):c.3194G>A (p.(Arg1065Gln)), CDAN1(NM_138477.4):c.3194G>A (p.R1065Q) - CDAN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3194G>A r.(?) p.(Arg1065Gln) Unknown - likely benign g.43018518C>T - CDAN1(NM_138477.2):c.3194G>A (p.(Arg1065Gln)), CDAN1(NM_138477.4):c.3194G>A (p.R1065Q) - CDAN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3204+22C>T r.(=) p.(=) Unknown - benign g.43018486G>A g.42726288G>A - - CDAN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3450+11C>T r.(=) p.(=) Parent #1 - likely benign g.43017676G>A g.42725478G>A - - CDAN1_000015 224 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56046122 Germline - 224/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 224 Mohammed Faruq
-?/. - c.3450+11C>T r.(=) p.(=) Both (homozygous) - likely benign g.43017676G>A g.42725478G>A - - CDAN1_000015 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56046122 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.3450+11C>T r.(=) p.(=) Unknown - likely benign g.43017676G>A - CDAN1(NM_138477.2):c.3450+11C>T (p.(=)) - CDAN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3450+11C>T r.(=) p.(=) Unknown - benign g.43017676G>A - CDAN1(NM_138477.2):c.3450+11C>T (p.(=)) - CDAN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3474A>C r.(?) p.(Leu1158=) Unknown - benign g.43017426T>G g.42725228T>G - - CDAN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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