All transcript variants in gene LCAT

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

1 entry on 1 page. Showing entry 1.
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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.-17557G>A VUS r.(?) p.(=) g.67995561C>T - SLC12A4(NM_001145961.1):c.259G>A (p.(Val87Ile), p.(Val89Ile), p.(Val81Ile), p.(Val56Ile)) - SLC12A4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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