All transcript variants in gene LIPE

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
?/. - c.1441T>C VUS r.(?) p.(Phe481Leu) g.42912453A>G - LIPE:c.1441T>C (F481L) - LIPE_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.2284G>A VUS r.(?) p.(Ala762Thr) g.42910394C>T - LIPE:c.2284G>A (A762T) - LIPE_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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