Unique variants in the ELK1 gene

Information The variants shown are described using the NM_005229.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
-?/. 1 - c.18G>A r.(?) p.(Thr6=) - likely benign g.47500823C>T g.47641424C>T ELK1(NM_001114123.2):c.18G>A (p.T6=) - ELK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 2 c.141G>A r.(?) p.(=) - likely benign g.47500700C>T g.47641301C>T G47G - ELK1_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.361G>A r.(?) p.(Ala121Thr) - likely benign g.47498587C>T g.47639188C>T ELK1(NM_001114123.2):c.361G>A (p.A121T) - ELK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.430G>A r.(?) p.(Gly144Ser) - likely benign g.47498518C>T g.47639119C>T ELK1(NM_001114123.2):c.430G>A (p.(Gly144Ser)) - ELK1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.506C>T r.(?) p.(Pro169Leu) - VUS g.47498442G>A g.47639043G>A ELK1(NM_001114123.2):c.506C>T (p.P169L) - ELK1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 3 c.548G>A r.(?) p.(Ser183Asn) - likely benign, VUS g.47498400C>T g.47639001C>T ELK1(NM_001114123.2):c.548G>A (p.(Ser183Asn)), S183N - ELK1_000011 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 1 - c.642C>T r.(?) p.(Gly214=) - likely benign g.47498306G>A g.47638907G>A ELK1(NM_001114123.2):c.642C>T (p.G214=) - ELK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.669G>A r.(?) p.(Pro223=) - VUS g.47497567C>T g.47638168C>T ELK1(NM_001114123.2):c.669G>A (p.(=)) - ELK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 4 c.672C>A r.(?) p.(=) - likely benign g.47497564G>T g.47638165G>T P224P - ELK1_000010 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.696A>C r.(?) p.(Glu232Asp) - likely benign g.47497540T>G g.47638141T>G ELK1(NM_001114123.2):c.696A>C (p.E232D) - ELK1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 4 c.970A>T r.(?) p.(Ser324Cys) - VUS g.47497266T>A g.47637867T>A S324C - ELK1_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1049C>T r.(?) p.(Pro350Leu) - VUS g.47497187G>A g.47637788G>A ELK1(NM_001114123.2):c.1049C>T (p.P350L) - ELK1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1061C>A r.(?) p.(Pro354Gln) - VUS g.47497175G>T g.47637776G>T ELK1(NM_001114123.2):c.1061C>A (p.P354Q) - ELK1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*7166G>A r.(=) p.(=) - likely benign g.47489062C>T g.47629663C>T CFP(NM_002621.2):c.88G>A (p.V30M) - CFP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*7199G>A r.(=) p.(=) - likely benign g.47489029C>T g.47629630C>T CFP(NM_002621.2):c.121G>A (p.G41S) - CFP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.*7235G>A r.(=) p.(=) - likely benign g.47488993C>T g.47629594C>T CFP(NM_002621.2):c.157G>A (p.V53M) - CFP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.*7287G>A r.(=) p.(=) - VUS g.47488941C>T g.47629542C>T CFP(NM_002621.2):c.209G>A (p.G70E) - CFP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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