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)     

RNA change     

Protein     

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     

Owner     
+/? 1 c.86A>T r.(?) p.(Asn29Ile) - pathogenic g.67977919T>A - - - LCAT_000002 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+/. - c.86A>T r.(?) p.(Asn29Ile) - pathogenic g.67977919T>A - LCAT(NM_000229.1):c.86A>T (p.N29I), SLC12A4(NM_005072.4):c.*824A>T - LCAT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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