All transcript variants in gene LCAT

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

3 entries on 1 page. Showing entries 1 - 3.
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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.312-10del benign r.(=) p.(=) g.67976889del - LCAT:c.312-10delC - LCAT_000125 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.312-7C>T benign r.(=) p.(=) g.67976886G>A - LCAT:c.312-7C>T - LCAT_000124 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.312-5C>G benign r.spl? p.? g.67976884G>C - LCAT:c.312-5C>G - LCAT_000123 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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