Full data view for gene CLIC2

Information The variants shown are described using the NM_001289.4 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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.-158693_*941351dup - - Maternal (confirmed) - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+?/. 3i_6_ c.293+1_294-1_*1692[0] r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(?_154487526)_(154509358_154528097)del g.(?_155258241)_(155280069_155298784)del - - RAB39B_000010 - PubMed: Wilsoni 2014 - - Germline yes - - 0 - DNA arraySNP - - PARK FamAusPatII3 PubMed: Wilsoni 2014 2-generation family, 3 affected brothers, unaffected heterozygous carrier mother M - Australia - - 0 - - 3 Johan den Dunnen
?/. - c.31G>A r.(?) p.(Asp11Asn) Unknown - VUS g.154563706C>T - CLIC2(NM_001289.6):c.31G>A (p.D11N) - CLIC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.58-6T>G r.(=) p.(=) Unknown - likely benign g.154528464A>C - CLIC2(NM_001289.5):c.58-6T>G - CLIC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.62G>T r.(?) p.(Gly21Val) Unknown - VUS g.154528454C>A - CLIC2(NM_001289.5):c.62G>T (p.G21V) - CLIC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385A>G r.(?) p.(Lys129Glu) Unknown - VUS g.154509266T>C g.155279977T>C CLIC2(NM_001289.4):c.385A>G (p.(Lys129Glu)) - CLIC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.394A>G r.(?) p.(Asn132Asp) Unknown - VUS g.154509257T>C g.155279968T>C CLIC2(NM_001289.5):c.394A>G (p.N132D) - CLIC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.401-3C>A r.spl? p.? Unknown - VUS g.154508622G>T g.155279333G>T CLIC2(NM_001289.5):c.401-3C>A - CLIC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.478C>G r.(?) p.(Pro160Ala) Parent #1 - VUS g.154508542G>C g.155279253G>C - - CLIC2_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.478C>G r.(?) p.(Pro160Ala) Unknown - likely benign g.154508542G>C g.155279253G>C CLIC2(NM_001289.4):c.478C>G (p.(Pro160Ala)) - CLIC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.662C>G r.(?) p.(Ala221Gly) Unknown - benign g.154507274G>C g.155277985G>C CLIC2(NM_001289.5):c.662C>G (p.A221G) - CLIC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.664C>T r.(?) p.(Arg222Cys) Unknown - VUS g.154507272G>A g.155277983G>A CLIC2(NM_001289.4):c.664C>T (p.(Arg222Cys)), CLIC2(NM_001289.5):c.664C>T (p.R222C) - CLIC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.664C>T r.(?) p.(Arg222Cys) Unknown - likely benign g.154507272G>A - CLIC2(NM_001289.4):c.664C>T (p.(Arg222Cys)), CLIC2(NM_001289.5):c.664C>T (p.R222C) - CLIC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.718G>A r.(?) p.(Ala240Thr) Unknown - likely benign g.154507218C>T - CLIC2(NM_001289.5):c.718G>A (p.A240T) - CLIC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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