Full data view for gene LIPE

Information The variants shown are described using the NM_005357.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.1441T>C VUS r.(?) p.(Phe481Leu) Unknown g.42912453A>G - LIPE(NM_005357.3):c.1441T>C (p.F481L) - LIPE_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2284G>A VUS r.(?) p.(Ala762Thr) Unknown g.42910394C>T - LIPE(NM_005357.3):c.2284G>A (p.A762T) - LIPE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2825C>G VUS r.(?) p.(Pro942Arg) Unknown g.42906901G>C - LIPE(NM_005357.3):c.2825C>G (p.P942R) - LIPE_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend