All transcript variants in gene ELAC2

Information The variants shown are described using the NM_001165962.1 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.1501G>A benign r.(?) p.(Ala501Thr) g.12899902C>T - ELAC2:c.1621G>A (A541T) - ELAC2_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.*629C>T - - p.(=) g.12895506G>A g.12992189G>A - - ELAC2_000001 - - - - Germline - - - - - Yu Sun
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