Full data view for gene LIPN

Information The variants shown are described using the NM_001102469.1 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.293A>T r.(?) p.(Tyr98Phe) Unknown - likely benign g.90524233A>T g.88764476A>T LIPN(NM_001102469.1):c.293A>T (p.Y98F) - LIPN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.297T>C r.(?) p.(Ala99=) Unknown - benign g.90524237T>C g.88764480T>C LIPN(NM_001102469.1):c.297T>C (p.A99=) - LIPN_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.731C>A r.(?) p.(Thr244Asn) Unknown - benign g.90530660C>A g.88770903C>A LIPN(NM_001102469.1):c.731C>A (p.T244N) - LIPN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.772G>A r.(?) p.(Glu258Lys) Unknown - likely benign g.90530701G>A g.88770944G>A LIPN(NM_001102469.1):c.772G>A (p.E258K) - LIPN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.819+6T>C r.(=) p.(=) Unknown - likely benign g.90530754T>C g.88770997T>C LIPN(NM_001102469.1):c.819+6T>C (p.(=)) - LIPN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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