All variants in the MAP7D2 gene

Information The variants shown are described using the NM_152780.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

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     
?/. - c.37C>T r.(?) p.(Arg13Trp) - VUS g.20134961G>A g.20116843G>A MAP7D2(NM_001168465.1):c.37C>T (p.(Arg13Trp)), MAP7D2(NM_001168465.2):c.37C>T (p.R13W) - MAP7D2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.37C>T r.(?) p.(Arg13Trp) - VUS g.20134961G>A - MAP7D2(NM_001168465.1):c.37C>T (p.(Arg13Trp)), MAP7D2(NM_001168465.2):c.37C>T (p.R13W) - MAP7D2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.398G>A r.(?) p.(Arg133Gln) - VUS g.20074884C>T g.20056766C>T MAP7D2(NM_001168465.1):c.398G>A (p.(Arg133Gln)) - MAP7D2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.467G>T r.(?) p.(Gly156Val) - likely benign g.20074815C>A - MAP7D2(NM_001168465.2):c.467G>T (p.G156V) - MAP7D2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 5 c.545A>G r.(?) p.(Asn182Ser) - VUS g.20071046T>C g.20052928T>C N182S - MAP7D2_000012 recurrent, found 41 times PubMed: Tarpey 2009 - - Germline - 41/208 cases - 0 - Lucy Raymond
-?/. - c.596-2A>G r.spl? p.? - likely benign g.20062644T>C g.20044526T>C MAP7D2(NM_001168465.1):c.719-2A>G (p.?) - MAP7D2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.677A>G r.(?) p.(Lys226Arg) - likely benign g.20062561T>C g.20044443T>C MAP7D2(NM_001168465.2):c.800A>G (p.K267R) - MAP7D2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.696G>A r.(?) p.(Thr232=) - likely benign g.20062542C>T - MAP7D2(NM_001168465.2):c.819G>A (p.T273=) - MAP7D2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 7 c.864A>G r.(?) p.(=) - likely benign g.20060640T>C g.20042522T>C P288P - MAP7D2_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.958C>T r.(?) p.(Arg320Cys) - VUS g.20043997G>A - MAP7D2(NM_001168465.2):c.1081C>T (p.R361C) - MAP7D2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 8 c.1062G>T r.(?) p.(=) - likely benign g.20043893C>A g.20025775C>A P354P - MAP7D2_000010 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-/. - c.1289+3A>G r.spl? p.? - benign g.20043066T>C g.20024948T>C MAP7D2(NM_001168465.2):c.1412+3A>G - MAP7D2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1395_1397del r.(?) p.(Lys467del) - VUS g.20034338_20034340del g.20016220_20016222del MAP7D2(NM_001168465.1):c.1518_1520del (p.(Lys508del)) - MAP7D2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1405G>A r.(?) p.(Glu469Lys) - VUS g.20034328C>T g.20016210C>T MAP7D2(NM_001168465.1):c.1528G>A (p.(Glu510Lys)) - MAP7D2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1567C>T r.(?) p.(Arg523Cys) - likely benign g.20033400G>A g.20015282G>A MAP7D2(NM_001168465.1):c.1690C>T (p.(Arg564Cys)) - MAP7D2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1672C>G r.(?) p.(Pro558Ala) - likely benign g.20031698G>C g.20013580G>C MAP7D2(NM_001168465.2):c.1795C>G (p.P599A) - MAP7D2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1769A>G r.(?) p.(Asn590Ser) - VUS g.20030647T>C - MAP7D2(NM_001168465.2):c.1892A>G (p.N631S) - MAP7D2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1910T>C r.(?) p.(Leu637Pro) - VUS g.20030506A>G g.20012388A>G MAP7D2(NM_001168465.2):c.2033T>C (p.L678P) - MAP7D2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 15 c.2127C>T r.(?) p.(=) - likely benign g.20028993G>A g.20010875G>A D709D - MAP7D2_000009 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
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