Full data view for gene MOCS2

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

46 entries on 1 page. Showing entries 1 - 46.
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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.-8_15del r.-8_15del p.0? Both (homozygous) - pathogenic (recessive) g.52405546_52405568del g.53109716_53109738del c.-8_15del23 (p.0?) - MOCS2_000024 - PubMed: Hahnewald 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MOCOD patient PubMed: Hahnewald 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Senegal - 00y00m23d - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (recessive) g.52405559T>C g.53109729T>C 1A>G (M1V) - MOCS2_000026 combination of alleles not reported PubMed: Reiss 2011 pers.comm. SAcquaviva - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Reiss 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.3G>C r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.52405557C>G g.53109727C>G 3G>A (M1I) - MOCS2_000029 - PubMed: Riess 1999 - - Germline - - - - - DNA SEQ - - MOCOD Pat1 PubMed: Riess 1999 - - - Egypt Coptic - - - - 1 Johan den Dunnen
+/. - c.16C>T r.(?) p.(Gln6*) Parent #1 - pathogenic (recessive) g.52405544G>A g.53109714G>A 16C>T (Q6X) - MOCS2_000019 - PubMed: Johnson 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MOCOD patient PubMed: Johnson 2001 - F no China - - - - - 1 Johan den Dunnen
+/. - c.19G>T r.(?) p.(Val7Phe) Parent #2 - pathogenic (recessive) g.52404473C>A g.53108643C>A 19G>T (V7F) - MOCS2_000020 - PubMed: Johnson 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MOCOD patient PubMed: Johnson 2001 - F no China - - - - - 1 Johan den Dunnen
+/. - c.33T>G r.(?) p.(Tyr11*) Unknown - pathogenic (recessive) g.52404459A>C g.53108629A>C (Y11X) - MOCS2_000021 combination of alleles not reported PubMed: Leimkuhler 2005 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Leimkuhler 2005 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.45T>A r.(?) p.(Ser15Arg) Parent #1 - pathogenic (recessive) g.52404447A>T g.53108617A>T 45T>A (S15R) - MOCS2_000030 combination of alleles not reported PubMed: Reiss 2003 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Reiss 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.88C>T r.(?) p.(Gln30*) Parent #1 - pathogenic (recessive) g.52404404G>A g.53108574G>A 88C>T (Q30X) - MOCS2_000031 combination of alleles not reported PubMed: Reiss 2003 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Reiss 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.106C>T r.(?) p.(Gln36*) Parent #1 - pathogenic (recessive) g.52404386G>A g.53108556G>A 106C>T (Q36X) - MOCS2_000032 combination of alleles not reported PubMed: Reiss 2003 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Reiss 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.130C>T r.(?) p.(Arg44*) Both (homozygous) - pathogenic (recessive) g.52404362G>A g.53108532G>A 130C>T (R44X) - MOCS2_000023 - PubMed: Per 2007 - - Germline - - - - - DNA SEQ - - MOCOD patient PubMed: Per 2007 2-generation family, 1 affected, 3 deceased sibs, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.178C>T r.(?) p.(Arg60Cys) Unknown - VUS g.52403014G>A g.53107184G>A MOCS2(NM_176806.3):c.178C>T (p.R60C), MOCS2(NM_176806.4):c.178C>T (p.R60C) - MOCS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.178C>T r.(?) p.(Arg60Cys) Unknown - VUS g.52403014G>A - MOCS2(NM_176806.3):c.178C>T (p.R60C), MOCS2(NM_176806.4):c.178C>T (p.R60C) - MOCS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.213C>T r.(=) p.(=) Paternal (confirmed) - VUS g.52402979G>A - 26C>T (no reference transcript) - MOCS2_000039 - PubMed: Paul 2023, Journal: Paul 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat6 PubMed: Paul 2023, Journal: Paul 2023 2-generation family, 1 affected, unaffected non carrier parents, older sister with simple febrile seizures, otherwise healthy M - United States Europe - - - - 1 Johan den Dunnen
+/. - c.220C>T r.(?) p.(Gln74*) Parent #1 - pathogenic (recessive) g.52402972G>A g.53107142G>A 220C>T (Q74X) - MOCS2_000025 combination of alleles not reported PubMed: Reiss 2011 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Reiss 2011 - - - - - - - - - 1 Johan den Dunnen
?/. - c.244A>T r.(?) p.(Ile82Phe) Unknown - VUS g.52402948T>A g.53107118T>A MOCS2(NM_004531.4):c.57A>T (p.L19F) - MOCS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.252dup r.(?) p.(Ile85HisfsTer2) Unknown - pathogenic g.52402946dup g.53107116dup MOCS2(NM_004531.5):c.65dup (p.(Leu23IlefsTer5)), MOCS2(NM_004531.5):c.65dupC (p.L23Ifs*5) - MOCS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.252dup r.(?) p.(Ile85Hisfs*2) Both (homozygous) - pathogenic (recessive) g.52402946dup g.53107116dup 252insC - MOCS2_000038 - PubMed: Riess 1999 - - Germline - - - - - DNA SEQ - - MOCOD Pat2 PubMed: Riess 1999 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.252dup r.(?) p.(Ile85HisfsTer2) Unknown - pathogenic g.52402946dup - MOCS2(NM_004531.5):c.65dup (p.(Leu23IlefsTer5)), MOCS2(NM_004531.5):c.65dupC (p.L23Ifs*5) - MOCS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*38G>A r.(=) p.(=) Unknown - likely benign g.52398035C>T g.53102205C>T MOCS2(NM_004531.4):c.118G>A (p.E40K) - MOCS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*68A>G r.(=) p.(=) Unknown - benign g.52398005T>C g.53102175T>C MOCS2(NM_004531.5):c.148A>G (p.T50A) - MOCS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*111G>A r.? p.? Parent #1 - pathogenic (recessive) g.52397962C>T - 564+1G>A - MOCS2_000027 combination of alleles not reported Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Reiss 2011 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Reiss 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.*146G>A r.(?) p.(=) Parent #1 - pathogenic (recessive) g.52397927C>T g.53102097C>T 413G>A - MOCS2_000033 combination of alleles not reported PubMed: Reiss 2003 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Reiss 2003 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.*146G>A r.(=) p.(=) Unknown - likely pathogenic g.52397927C>T - MOCS2(NM_004531.5):c.226G>A (p.(Gly76Arg)) - MOCS2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*147-20_*147-17dup r.(=) p.(=) Unknown - benign g.52397359_52397362dup g.53101529_53101532dup MOCS2(NM_004531.5):c.227-20_227-17dupCTTT - MOCS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*175A>G r.(=) p.(=) Unknown - benign g.52397311T>C g.53101481T>C MOCS2(NM_004531.5):c.255A>G (p.K85=) - MOCS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*216C>T r.(=) p.(=) Unknown - VUS g.52397270G>A g.53101440G>A MOCS2(NM_004531.5):c.296C>T (p.A99V) - MOCS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*234del r.(?) p.(=) Parent #1 - pathogenic (recessive) g.52397254del g.53101424del 501delA - MOCS2_000028 combination of alleles not reported PubMed: Reiss 2011 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Reiss 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.*266_*269del r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.52397219_52397222del g.53101389_53101392del 533del4 - MOCS2_000016 - PubMed: Riess 1999 - - Germline - - - - - DNA SEQ - - MOCOD Pat3 PubMed: Riess 1999 - - - Italy - - - - - 1 Johan den Dunnen
-?/. - c.*287C>T r.(=) p.(=) Unknown - likely benign g.52397199G>A g.53101369G>A MOCS2(NM_004531.5):c.367C>T (p.H123Y) - MOCS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*287C>T r.(?) p.(=) Parent #1 - VUS g.52397199G>A g.53101369G>A - - MOCS2_000002 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2233218 Germline - 1/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.*287C>T r.(=) p.(=) Unknown - benign g.52397199G>A - MOCS2(NM_004531.5):c.367C>T (p.H123Y) - MOCS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*297G>C r.spl? p.(=) Parent #1 - pathogenic (recessive) g.52397189C>G g.53101359C>G 564G>C - MOCS2_000034 combination of alleles not reported PubMed: Reiss 2003 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Reiss 2003 - - - - - - - - - 1 Johan den Dunnen
?/. - c.*331T>G r.(=) p.(=) Unknown - VUS g.52396331A>C - MOCS2(NM_004531.5):c.411T>G (p.(Ile137Met)) - MOCS2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*369_*371del r.(=) p.(=) Parent #1 - pathogenic (recessive) g.52396292_52396294del g.53100462_53100464del 635_637del3 - MOCS2_000035 combination of alleles not reported PubMed: Reiss 2003 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Reiss 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.*391_*397delinsG r.(?) p.(=) Parent #1 - pathogenic (recessive) g.52396265_52396271delinsC g.53100435_53100441delinsC 658_664del7insG - MOCS2_000036 combination of alleles not reported PubMed: Reiss 2003 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Reiss 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.*422G>A r.(?( p.(=) Parent #2 - pathogenic (recessive) g.52394497C>T g.53098667C>T 689G>A (E168K) - MOCS2_000018 - PubMed: Riess 1999 - - Germline - - - - - DNA SEQ - - MOCOD Pat4 PubMed: Riess 1999 - - - Germany - - - - - 1 Johan den Dunnen
-?/. - c.*430C>T r.(=) p.(=) Unknown - likely benign g.52394489G>A g.53098659G>A MOCS2(NM_004531.4):c.510C>T (p.Y170=), MOCS2(NM_004531.5):c.510C>T (p.Y170=) - ITGA2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*430C>T r.(=) p.(=) Unknown - likely benign g.52394489G>A g.53098659G>A MOCS2(NM_004531.4):c.510C>T (p.Y170=), MOCS2(NM_004531.5):c.510C>T (p.Y170=) - ITGA2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*452_*456del r.(=) p.(=) Parent #1 - pathogenic (recessive) g.52394468_52394472del g.53098638_53098642del 714_718del5 - MOCS2_000037 combination of alleles not reported PubMed: Reiss 2003 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Reiss 2003 - - - - - - - - - 1 Johan den Dunnen
+/. - c.*459_*460del r.(?) p.(=) Parent #1 - pathogenic (recessive) g.52394460_52394461del g.53098630_53098631del 726del2 - MOCS2_000017 - PubMed: Riess 1999 - - Germline - - - - - DNA SEQ - - MOCOD Pat4 PubMed: Riess 1999 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.*459_*460del r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.52394460_52394461del g.53098630_53098631del 726del2 - MOCS2_000017 - PubMed: Riess 1999 - - Germline - - - - - DNA SEQ - - MOCOD Pat5 PubMed: Riess 1999 - - - France - - - - - 1 Johan den Dunnen
+/. - c.*459_*460del r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.52394460_52394461del g.53098630_53098631del 726del2 - MOCS2_000017 - PubMed: Riess 1999 - - Germline - - - - - DNA SEQ - - MOCOD Pat6 PubMed: Riess 1999 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.*459_*460del r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.52394460_52394461del g.53098630_53098631del 726del2 - MOCS2_000017 - PubMed: Riess 1999 - - Germline - - - - - DNA SEQ - - MOCOD Pat7 PubMed: Riess 1999 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.*480A>G r.(=) p.(=) Unknown - likely benign g.52394439T>C g.53098609T>C MOCS2(NM_004531.5):c.560A>G (p.N187S) - ITGA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*487A>C r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.52394432T>G g.53098602T>G 754A>C - MOCS2_000022 - PubMed: Leimkuhler 2005 - - Germline - - - - - DNA SEQ - - MOCOD - PubMed: Leimkuhler 2005 - - - Mexico - - - - - 1 Johan den Dunnen
-?/. - c.*531A>C r.(=) p.(=) Unknown - likely benign g.52394388T>G - MOCS2(NM_176806.4):c.*531A>C - ITGA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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