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     
-/. - c.1177C>T benign r.(?) p.(=) g.67973953G>A - LCAT(NM_000229.1):c.1177C>T (p.L393=) - LCAT_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1177C>T - r.(=) p.(=) g.67973953G>A g.67940050G>A - - LCAT_000137 140 heterozygous, 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs5923 Germline - 141/2654 individuals - 0 - Mohammed Faruq
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