Full data view for gene LCAT

Information The variants shown are described using the NM_000229.1 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. 4 c.440C>T - r.440c>u p.Thr147Ile Paternal (inferred) g.67976657G>A g.67942754G>A C2182T (T123I) - LCAT_000010 - PubMed: Kuivenhoven 1996 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - FED 08755645-Fam PubMed: Kuivenhoven 1996 4-generation family, 3 affected sisters, 7 unaffected heterozygous carriers F no Netherlands - - 0 - - 3 Johan den Dunnen
+/. - c.440C>T pathogenic r.(?) p.(Thr147Ile) Unknown g.67976657G>A - LCAT(NM_000229.1):c.440C>T (p.T147I) - LCAT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 4 c.440C>T pathogenic r.(?) p.(Thr147Ile) Unknown g.67976657G>A - - - LCAT_000010 - - - - Unknown - - - 0 - DNA SEQ - - FED - - - - - Netherlands - - 0 - - 1 M. Mahdi Motazacker
+/? 4 c.440C>T pathogenic r.(?) p.(Thr147Ile) Unknown g.67976657G>A - - - LCAT_000010 - - - - Unknown - - - 0 - DNA SEQ - - HDLCD-2 - - - - - - - - 0 - - 1 M. Mahdi Motazacker
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