All transcript variants in gene ELAC2

Information The variants shown are described using the NM_001165962.1 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
Legend  

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.319A>G VUS r.(?) p.(Asn107Asp) g.12920227T>C - ELAC2(NM_018127.6):c.319A>G (p.N107D) - ELAC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.368-4T>A likely benign r.spl? p.? g.12919153A>T - ELAC2(NM_001165962.1):c.368-4T>A (p.?) - ELAC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.902_903insGGGT VUS r.(?) p.(His302Glyfs*24) g.12906855_12906856insCACC - ELAC2(NM_001165962.1):c.901_902insGTGG (p.(Val301GlyfsTer25), p.(Val341GlyfsTer25)) - ELAC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1185-7_1185-6insTCTC likely benign r.(=) p.(=) g.12903599_12903600insGAGA - ELAC2(NM_001165962.1):c.1185-8_1185-7insTCTC (p.(=)) - ELAC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1185-6dup likely benign r.(=) p.(=) g.12903598dup - ELAC2(NM_001165962.1):c.1185-6dup (p.(=)) - ELAC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1501G>A benign r.(?) p.(Ala501Thr) g.12899902C>T - ELAC2(NM_018127.6):c.1621G>A (p.A541T) - ELAC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1578+5G>A VUS r.spl? p.? g.12899252C>T - ELAC2(NM_001165962.1):c.1578+5G>A (p.?) - ELAC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1760C>T likely benign r.(?) p.(Ser587Leu) g.12898308G>A - ELAC2(NM_018127.6):c.1880C>T (p.S627L) - ELAC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*629C>T - - p.(=) g.12895506G>A g.12992189G>A - - ELAC2_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.*8171T>G likely benign r.(=) p.(=) g.12887964A>C - ARHGAP44(NM_014859.4):c.2056A>C (p.(Thr686Pro)) - ELAC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*8173C>G likely benign r.(=) p.(=) g.12887962G>C - ARHGAP44(NM_014859.4):c.2054G>C (p.(Ser685Thr)) - ELAC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*8174T>G likely benign r.(=) p.(=) g.12887961A>C - ARHGAP44(NM_014859.4):c.2053A>C (p.(Ser685Arg)) - ELAC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*8183T>G likely benign r.(=) p.(=) g.12887952A>C - ARHGAP44(NM_014859.4):c.2044A>C (p.(Thr682Pro)) - ELAC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend