All transcript variants in gene ELF4

Information The variants shown are described using the NM_001421.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.76-234dup - - p.(=) g.129208961dup g.130074986dup - - ELF4_000002 - - - - Germline - - - - - Yu Sun
-?/. - c.283G>A likely benign r.(?) p.(Ala95Thr) g.129208081C>T - ELF4(NM_001421.3):c.283G>A (p.A95T) - ELF4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.367T>A likely benign r.(?) p.(Ser123Thr) g.129206366A>T - ELF4(NM_001421.3):c.367T>A (p.S123T) - ELF4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.423C>T likely benign r.(?) p.(=) g.129206310G>A - ELF4(NM_001421.3):c.423C>T (p.P141=) - ELF4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.560C>A likely benign r.(?) p.(Thr187Asn) g.129205367G>T - ELF4(NM_001127197.1):c.560C>A (p.(Thr187Asn)) - ELF4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.649G>A likely benign r.(?) p.(Ala217Thr) g.129205175C>T - ELF4(NM_001127197.1):c.649G>A (p.(Ala217Thr)) - ELF4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.810-4C>G likely benign r.spl? p.? g.129203656G>C - ELF4(NM_001127197.1):c.810-4C>G (p.?) - ELF4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.810-4C>G likely benign r.spl? p.? g.129203656G>C - ELF4(NM_001127197.1):c.810-4C>G (p.?) - ELF4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.871A>G likely benign r.(?) p.(Lys291Glu) g.129203591T>C - ELF4(NM_001127197.1):c.871A>G (p.(Lys291Glu)) - ELF4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1015del VUS r.(?) p.(Ala339Profs*32) g.129203447del - ELF4(NM_001421.3):c.1015delG (p.A339Pfs*32) - ELF4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1085C>T VUS r.(?) p.(Ala362Val) g.129203377G>A - ELF4(NM_001127197.1):c.1085C>T (p.(Ala362Val)) - ELF4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. 8 c.1107G>A - r.(?) p.(=) g.129203355C>T - S369S - ELF4_000013 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-?/. - c.1107G>A likely benign r.(?) p.(=) g.129203355C>T - ELF4(NM_001421.3):c.1107G>A (p.S369=) - ELF4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1144G>A likely benign r.(?) p.(Val382Ile) g.129203318C>T - ELF4(NM_001421.3):c.1144G>A (p.V382I) - ELF4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 8 c.1152A>T - r.(?) p.(=) g.129203310T>A - P384P - ELF4_000012 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
?/. - c.1187+62dup - - p.(=) g.129203213dup g.130069238dup - - ELF4_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1187+77del - - p.(=) g.129203198del g.130069223del - - ELF4_000003 - - - - Germline - - - - - Yu Sun
-?/. - c.1419G>T likely benign r.(?) p.(Gln473His) g.129201269C>A - ELF4(NM_001127197.1):c.1419G>T (p.(Gln473His)) - ELF4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1483C>T likely benign r.(?) p.(Arg495Cys) g.129201205G>A - ELF4(NM_001421.3):c.1483C>T (p.R495C) - ELF4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1499C>T likely benign r.(?) p.(Ala500Val) g.129201189G>A - ELF4(NM_001127197.1):c.1499C>T (p.(Ala500Val)) - ELF4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1499C>T benign r.(?) p.(Ala500Val) g.129201189G>A - ELF4(NM_001127197.1):c.1499C>T (p.(Ala500Val)) - ELF4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 9 c.1509G>A - r.(?) p.(=) g.129201179C>T - T503T - ELF4_000011 recurrent, found 54 times PubMed: Tarpey 2009 - - Germline - 54/208 cases - 0 - Lucy Raymond
?/. - c.1535C>T VUS r.(?) p.(Pro512Leu) g.129201153G>A - ELF4(NM_001127197.1):c.1535C>T (p.(Pro512Leu)) - ELF4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1810C>T likely benign r.(?) p.(Arg604Cys) g.129200878G>A - ELF4(NM_001127197.1):c.1810C>T (p.(Arg604Cys)) - ELF4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1810C>T likely benign r.(?) p.(Arg604Cys) g.129200878G>A - ELF4(NM_001127197.1):c.1810C>T (p.(Arg604Cys)) - ELF4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1849C>G VUS r.(?) p.(Leu617Val) g.129200839G>C - ELF4(NM_001127197.1):c.1849C>G (p.(Leu617Val)) - ELF4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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