Full data view for gene MUM1L1

Information The variants shown are described using the NM_152423.4 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.-540A>G r.(?) p.(=) Maternal (inferred) - VUS g.105415129A>G g.106171136A>G - - MUM1L1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-540A>G r.(?) p.(=) Maternal (inferred) - VUS g.105415129A>G g.106171136A>G - - MUM1L1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.6G>A r.(?) p.(Glu2=) Unknown - likely benign g.105449431G>A g.106205438G>A PWWP3B(NM_152423.4):c.6G>A (p.E2=) - MUM1L1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.20T>A r.(?) L7Q Parent #1 - VUS g.105449445T>A g.106205452T>A L7Q - MUM1L1_000004 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 5 Lucy Raymond
?/. - c.27C>A r.(?) p.(Asn9Lys) Unknown - VUS g.105449452C>A g.106205459C>A MUM1L1(NM_001171020.1):c.27C>A (p.(Asn9Lys)) - MUM1L1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.284G>A r.(?) p.(Gly95Asp) Maternal (inferred) - VUS g.105449709G>A g.106205716G>A - - MUM1L1_000002 - - - - Unknown - - - 0 - DNA SEQ-NG Skin Fibroblasts - ID - - family, 2 affected brothers M yes Palestine Palestinian - 0 - - 2 Swati Gupta
?/. - c.284G>A r.(?) p.(Gly95Asp) Unknown - VUS g.105449709G>A g.106205716G>A MUM1L1(NM_001171020.1):c.284G>A (p.(Gly95Asp)) - MUM1L1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.421T>C r.(?) p.(Leu141=) Unknown - likely benign g.105449846T>C - PWWP3B(NM_152423.4):c.421T>C (p.L141=) - MUM1L1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.481G>A r.(?) p.(Asp161Asn) Unknown - likely benign g.105449906G>A g.106205913G>A MUM1L1(NM_152423.4):c.481G>A (p.D161N) - MUM1L1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.537A>T r.(?) p.(Pro179=) Unknown - likely benign g.105449962A>T - PWWP3B(NM_152423.4):c.537A>T (p.P179=) - MUM1L1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.546G>A r.(?) V182V Parent #1 - likely benign g.105449971G>A g.106205978G>A V182V - MUM1L1_000005 recurrent, found 7 times PubMed: Tarpey 2009 - - Germline - 7/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 7 Lucy Raymond
-?/. 5 c.579C>T r.(?) C193C Parent #1 - likely benign g.105450004C>T g.106206011C>T C193C - MUM1L1_000006 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.739A>G r.(?) p.(Met247Val) Unknown - likely benign g.105450164A>G g.106206171A>G MUM1L1(NM_152423.4):c.739A>G (p.M247V) - MUM1L1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1001T>C r.(?) p.(Met334Thr) Unknown - likely benign g.105450426T>C g.106206433T>C MUM1L1(NM_001171020.1):c.1001T>C (p.(Met334Thr)), PWWP3B(NM_152423.4):c.1001T>C (p.M334T) - MUM1L1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1001T>C r.(?) p.(Met334Thr) Unknown - likely benign g.105450426T>C - MUM1L1(NM_001171020.1):c.1001T>C (p.(Met334Thr)), PWWP3B(NM_152423.4):c.1001T>C (p.M334T) - MUM1L1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1030G>T r.(?) p.(Asp344Tyr) Unknown - VUS g.105450455G>T - PWWP3B(NM_152423.4):c.1030G>T (p.D344Y) - MUM1L1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123G>A r.(?) p.(Asp375Asn) Unknown - VUS g.105450548G>A g.106206555G>A MUM1L1(NM_152423.4):c.1123G>A (p.D375N) - MUM1L1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2075C>T r.(?) p.(Thr692Ile) Unknown - likely benign g.105451500C>T - PWWP3B(NM_152423.4):c.2075C>T (p.T692I) - MUM1L1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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