Full data view for gene ANKS3

Information The variants shown are described using the NM_133450.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.-4031G>A r.(?) p.(=) Unknown - likely benign g.4787899C>T g.4737898C>T C16orf71(NM_139170.3):c.228C>T (p.G76=) - ANKS3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675G>A r.(?) p.(Ser225=) Unknown - likely benign g.4764086C>T g.4714085C>T ANKS3(NM_133450.3):c.675G>A (p.S225=) - ANKS3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.809G>A r.(?) p.(Arg270Gln) Unknown - likely benign g.4755155C>T g.4705154C>T ANKS3(NM_133450.3):c.809G>A (p.R270Q) - ANKS3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1010-3C>T r.spl? p.? Unknown - likely benign g.4751547G>A - ANKS3(NM_133450.3):c.1010-3C>T - ANKS3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1949A>G r.(=) p.(=) Unknown - VUS g.4744960T>C g.4694959T>C NUDT16L1(NM_001193452.1):c.486T>C (p.(=)) - NUDT16L1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*3010_*3021del r.(=) p.(=) Unknown - VUS g.4743898_4743909del g.4693897_4693908del NUDT16L1(NM_001193452.1):c.153+8_153+19del (p.(=)) - NUDT16L1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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