All transcript variants in gene LCAT

Information The variants shown are described using the NM_000229.1 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     
+/. 4 c.440C>T - r.440c>u p.Thr147Ile g.67976657G>A g.67942754G>A C2182T (T123I) - LCAT_000010 - PubMed: Kuivenhoven 1996 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.440C>T pathogenic r.(?) p.(Thr147Ile) g.67976657G>A - LCAT:c.440C>T (T147I) - LCAT_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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