Full data view for gene MPP1

Information The variants shown are described using the NM_002436.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-688781_*441611dup - - Maternal (confirmed) - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.47C>T r.(?) p.(Thr16Met) Unknown - likely benign g.154033602G>A g.154805327G>A MPP1(NM_001166460.1):c.47C>T (p.(Thr16Met)) - MPP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.102+5528G>T r.(=) p.(=) Unknown - VUS g.154028019C>A g.154799744C>A MPP1(NM_001166462.1):c.12+1G>T - MPP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.200G>A r.(?) p.(Arg67Gln) Parent #1 - VUS g.154020463C>T g.154792188C>T - - MPP1_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.255G>T r.(=) p.(=) Parent #1 - likely benign g.154020114C>A g.154791839C>A T85T - MPP1_000012 recurrent, found 147 times PubMed: Tarpey 2009 - - Germline - 147/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 147 Lucy Raymond
-?/. - c.383A>G r.(?) p.(His128Arg) Unknown - likely benign g.154019286T>C - MPP1(NM_001166462.1):c.293A>G (p.H98R) - MPP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.398T>C r.(?) p.(Leu133Pro) Unknown - VUS g.154019271A>G g.154790996A>G MPP1(NM_001166462.1):c.308T>C (p.L103P) - MPP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.412-284G>A r.(=) p.(=) Maternal (inferred) - VUS g.154018581C>T g.154790306C>T - - MPP1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.412-284G>A r.(=) p.(=) Maternal (inferred) - VUS g.154018581C>T g.154790306C>T - - MPP1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.546G>A r.(=) p.(=) Parent #1 - likely benign g.154014610C>T g.154786335C>T A182A - MPP1_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.822C>T r.(=) p.(=) Parent #1 - likely benign g.154012346G>A g.154784071G>A V274V - MPP1_000010 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1150-56del r.(=) p.(=) Unknown - VUS g.154009644del g.154781369del - - MPP1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1204C>T r.(?) p.(Pro402Ser) Unknown - VUS g.154009534G>A g.154781259G>A MPP1(NM_001166460.1):c.1153C>T (p.(Pro385Ser)) - DKC1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1224+199C>G r.(=) p.(=) Maternal (inferred) - VUS g.154009315G>C g.154781040G>C - - MPP1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1224+199C>G r.(=) p.(=) Maternal (inferred) - VUS g.154009315G>C g.154781040G>C - - MPP1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1249_1251del r.(?) p.(Lys417del) Unknown - VUS g.154007604_154007606del g.154779329_154779331del MPP1(NM_001166462.1):c.1159_1161delAAG (p.K387del) - MPP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2213T>C r.(=) p.(=) Unknown - likely benign g.154005239A>G g.154776964A>G - - DKC1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2304C>T r.(=) p.(=) Unknown - benign g.154005148G>A g.154776873G>A - - DKC1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2327C>T r.(=) p.(=) Unknown - VUS g.154005125G>A g.154776850G>A DKC1(NM_001363.3):c.1528G>A (p.E510K) - DKC1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2358_*2363del r.(=) p.(=) Unknown - likely benign g.154005106_154005111del g.154776831_154776836del DKC1(NM_001363.3):c.1509_1514delGAAGAA (p.K504_K505del) - DKC1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2358_*2363dup r.(=) p.(=) Unknown - VUS g.154005106_154005111dup g.154776831_154776836dup DKC1(NM_001363.3):c.1509_1514dupGAAGAA (p.K504_K505dup) - DKC1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2361_*2363del r.(=) p.(=) Unknown - likely benign g.154005109_154005111del g.154776834_154776836del DKC1(NM_001142463.1):c.1477_1479del (p.(Lys500del)), DKC1(NM_001363.3):c.1512_1514delGAA (p.K505del), DKC1(NM_001363.5):c.1512_1514delGAA (p.K505del) - DKC1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2361_*2363del r.(=) p.(=) Unknown - likely benign g.154005109_154005111del g.154776834_154776836del DKC1(NM_001142463.1):c.1477_1479del (p.(Lys500del)), DKC1(NM_001363.3):c.1512_1514delGAA (p.K505del), DKC1(NM_001363.5):c.1512_1514delGAA (p.K505del) - DKC1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2361_*2363del r.(=) p.(=) Unknown - benign g.154005109_154005111del g.154776834_154776836del DKC1(NM_001142463.1):c.1477_1479del (p.(Lys500del)), DKC1(NM_001363.3):c.1512_1514delGAA (p.K505del), DKC1(NM_001363.5):c.1512_1514delGAA (p.K505del) - DKC1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2361_*2363del r.(=) p.(=) Unknown - benign g.154005109_154005111del - DKC1(NM_001142463.1):c.1477_1479del (p.(Lys500del)), DKC1(NM_001363.3):c.1512_1514delGAA (p.K505del), DKC1(NM_001363.5):c.1512_1514delGAA (p.K505del) - DKC1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2361_*2363dup r.(=) p.(=) Unknown - VUS g.154005109_154005111dup g.154776834_154776836dup DKC1(NM_001142463.1):c.1476_1477insAAG (p.(Lys500dup)), DKC1(NM_001363.3):c.1512_1514dupGAA (p.K505dup), DKC1(NM_001363.5):c.1512_1514dupGAA (p.K5...) - DKC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2361_*2363dup r.(=) p.(=) Unknown - likely benign g.154005109_154005111dup g.154776834_154776836dup DKC1(NM_001142463.1):c.1476_1477insAAG (p.(Lys500dup)), DKC1(NM_001363.3):c.1512_1514dupGAA (p.K505dup), DKC1(NM_001363.5):c.1512_1514dupGAA (p.K5...) - DKC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2361_*2363dup r.(=) p.(=) Unknown - likely benign g.154005109_154005111dup g.154776834_154776836dup DKC1(NM_001142463.1):c.1476_1477insAAG (p.(Lys500dup)), DKC1(NM_001363.3):c.1512_1514dupGAA (p.K505dup), DKC1(NM_001363.5):c.1512_1514dupGAA (p.K5...) - DKC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2361_*2363dup r.(=) p.(=) Unknown - benign g.154005109_154005111dup g.154776834_154776836dup DKC1(NM_001142463.1):c.1476_1477insAAG (p.(Lys500dup)), DKC1(NM_001363.3):c.1512_1514dupGAA (p.K505dup), DKC1(NM_001363.5):c.1512_1514dupGAA (p.K5...) - DKC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2361_*2363dup r.(=) p.(=) Unknown - likely benign g.154005109_154005111dup - DKC1(NM_001142463.1):c.1476_1477insAAG (p.(Lys500dup)), DKC1(NM_001363.3):c.1512_1514dupGAA (p.K505dup), DKC1(NM_001363.5):c.1512_1514dupGAA (p.K5...) - DKC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2868G>A r.(=) p.(=) Unknown - benign g.154004584C>T g.154776309C>T - - DKC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2873C>T r.(=) p.(=) Unknown - likely benign g.154004579G>A g.154776304G>A DKC1(NM_001142463.1):c.1441G>A (p.(Gly481Arg)), DKC1(NM_001363.3):c.1456G>A (p.G486R) - DKC1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2873C>T r.(=) p.(=) Unknown - likely benign g.154004579G>A g.154776304G>A DKC1(NM_001142463.1):c.1441G>A (p.(Gly481Arg)), DKC1(NM_001363.3):c.1456G>A (p.G486R) - DKC1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2887G>C r.(=) p.(=) Unknown - likely benign g.154004565C>G g.154776290C>G DKC1(NM_001363.3):c.1442C>G (p.A481G) - DKC1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2897T>G r.(=) p.(=) Unknown - VUS g.154004555A>C g.154776280A>C DKC1(NM_001363.3):c.1432A>C (p.K478Q) - DKC1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3901C>T r.(=) p.(=) Unknown - likely benign g.154003551G>A - DKC1(NM_001288747.1):c.*564+3G>A - DKC1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3930C>A r.(=) p.(=) Unknown - VUS g.154003522G>T g.154775247G>T DKC1(NM_001363.3):c.1312G>T (p.V438F) - DKC1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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