Full data view for gene MSN

Information The variants shown are described using the NM_002444.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.1A>C r.(?) p.(Met1?) Unknown - VUS g.64887709A>C g.65667842A>C MSN(NM_002444.2):c.1A>C (p.M1?) - MSN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.12+145G>T r.(=) p.(=) Maternal (inferred) - VUS g.64887865G>T g.65667998G>T - - MSN_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.12+145G>T r.(=) p.(=) Maternal (inferred) - VUS g.64887865G>T g.65667998G>T - - MSN_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.96+8G>C r.(=) p.(=) Unknown - likely benign g.64936771G>C g.65716909G>C MSN(NM_002444.3):c.96+8G>C - MSN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.185A>G r.(?) p.(Asn62Ser) Unknown - likely benign g.64947764A>G g.65727902A>G MSN(NM_002444.2):c.185A>G (p.N62S) - MSN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.241C>T r.(?) p.(Arg81Cys) Unknown - VUS g.64949348C>T g.65729486C>T MSN(NM_002444.2):c.241C>T (p.R81C) - MSN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299G>A r.(?) p.(Arg100His) Unknown - VUS g.64949406G>A - MSN(NM_002444.2):c.299G>A (p.R100H) - MSN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.528T>C r.(=) p.(=) Parent #1 - likely benign g.64951029T>C g.65731167T>C H176H - MSN_000009 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
-?/. - c.551+10C>T r.(=) p.(=) Unknown - likely benign g.64951062C>T g.65731200C>T MSN(NM_002444.3):c.551+10C>T - MSN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.884G>A r.(?) p.(Arg295His) Unknown - VUS g.64955217G>A g.65735355G>A MSN(NM_002444.2):c.884G>A (p.R295H) - MSN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.936G>T r.(?) p.(Glu312Asp) Unknown - likely benign g.64955269G>T g.65735407G>T MSN(NM_002444.2):c.936G>T (p.E312D) - MSN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1091-8C>T r.(=) p.(=) Unknown - likely benign g.64957032C>T g.65737170C>T MSN(NM_002444.2):c.1091-8C>T (p.(=)) - MSN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1136G>A r.(?) p.(Arg379Gln) Unknown - VUS g.64957085G>A g.65737223G>A MSN(NM_002444.2):c.1136G>A (p.R379Q) - MSN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1146C>G r.(?) p.(Ala382=) Unknown - likely benign g.64957095C>G - MSN(NM_002444.2):c.1146C>G (p.A382=) - MSN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1181A>G r.(?) p.(Gln394Arg) Unknown - benign g.64957130A>G g.65737268A>G MSN(NM_002444.2):c.1181A>G (p.Q394R) - MSN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1251+3A>G r.spl? p.? Unknown - VUS g.64957203A>G g.65737341A>G MSN(NM_002444.2):c.1251+3A>G (p.?) - MSN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1252-4G>A r.spl? p.? Unknown - likely benign g.64958383G>A - MSN(NM_002444.3):c.1252-4G>A - MSN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1345-8C>T r.(=) p.(=) Unknown - likely benign g.64958824C>T g.65738962C>T MSN(NM_002444.2):c.1345-8C>T (p.(=)) - MSN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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