Full data view for gene MAPK1

Information The variants shown are described using the NM_002745.4 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.17_22dup r.(?) p.(Ala6_Ala7dup) Unknown - VUS g.22221723_22221728dup - MAPK1(NM_002745.5):c.17_22dup (p.(Ala6_Ala7dup)) - MAPK1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.20_22dup r.(?) p.(Ala7dup) Unknown - benign g.22221726_22221728dup g.21867436_21867438dup MAPK1(NM_002745.4):c.20_22dupCGG (p.A7dup), MAPK1(NM_002745.5):c.20_22dup (p.(Ala7dup)), MAPK1(NM_002745.5):c.20_22dupCGG (p.A7dup) - MAPK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.20_22dup r.(?) p.(Ala7dup) Unknown - likely benign g.22221726_22221728dup g.21867436_21867438dup MAPK1(NM_002745.4):c.20_22dupCGG (p.A7dup), MAPK1(NM_002745.5):c.20_22dup (p.(Ala7dup)), MAPK1(NM_002745.5):c.20_22dupCGG (p.A7dup) - MAPK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.20_22dup r.(?) p.(Ala7dup) Unknown - likely benign g.22221726_22221728dup - MAPK1(NM_002745.4):c.20_22dupCGG (p.A7dup), MAPK1(NM_002745.5):c.20_22dup (p.(Ala7dup)), MAPK1(NM_002745.5):c.20_22dupCGG (p.A7dup) - MAPK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.119+18346C>T r.(=) p.(=) Unknown - likely benign g.22203266G>A - MAPK1(NM_002745.5):c.119+18346C>T - MAPK1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129T>C r.(?) p.(=) Unknown - likely benign g.22162126A>G - MAPK1(NM_002745.5):c.129T>C (p.(Tyr43=)) - MAPK1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.221T>A r.(?) p.(Ile74Asn) Unknown ACMG pathogenic (dominant) g.22162034A>T g.21807745A>T - - MAPK1_000009 ACMG PS2, PS3, PM1, PM2, PP2, PP3 PubMed: Motta 2020, Journal: Motta 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Motta 2020, Journal: Motta 2020 - M no Spain white - - - - 1 Johan den Dunnen
?/. - c.238C>T r.(?) p.(His80Tyr) Unknown - VUS g.22162017G>A g.21807728G>A MAPK1(NM_002745.5):c.238C>T (p.H80Y) - MAPK1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.238C>T r.(?) p.(His80Tyr) Unknown ACMG pathogenic (dominant) g.22162017G>A g.21807728G>A - - MAPK1_000001 ACMG PS2, PS3, PM1, PM2, PP2, PP3 PubMed: Motta 2020, Journal: Motta 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Motta 2020, Journal: Motta 2020 - M - - white - - - - 1 Johan den Dunnen
?/. - c.281C>T r.(?) p.(Thr94Ile) Unknown - VUS g.22161974G>A - MAPK1(NM_002745.4):c.281C>T (p.(Thr94Ile)), MAPK1(NM_002745.5):c.281C>T (p.T94I) - MAPK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281C>T r.(?) p.(Thr94Ile) Unknown - VUS g.22161974G>A - MAPK1(NM_002745.4):c.281C>T (p.(Thr94Ile)), MAPK1(NM_002745.5):c.281C>T (p.T94I) - MAPK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.396G>C r.(?) p.(Gln132His) Unknown - VUS g.22160235C>G - MAPK1(NM_002745.5):c.396G>C (p.(Gln132His)) - MAPK1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.521C>T r.(?) p.(Ala174Val) Unknown ACMG pathogenic (dominant) g.22153389G>A g.21799100G>A - - MAPK1_000008 ACMG PS2, PS3, PM1, PM2, PP2, PP3 PubMed: Motta 2020, Journal: Motta 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Motta 2020, Journal: Motta 2020 - M no Italy white - - - - 1 Johan den Dunnen
?/. - c.640G>A r.(?) p.(Val214Ile) Unknown - VUS g.22143067C>T - MAPK1(NM_002745.5):c.640G>A (p.(Val214Ile)) - MAPK1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.931C>G r.(?) p.(Pro311Ala) Unknown - VUS g.22127197G>C - - - MAPK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.952G>A r.(?) p.(Asp318Asn) Unknown ACMG pathogenic (dominant) g.22127176C>T g.21772887C>T - - MAPK1_000007 ACMG PS2, PS3, PM1, PM2, PP2, PP3 PubMed: Motta 2020, Journal: Motta 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Motta 2020, Journal: Motta 2020 - F no Netherlands white - - - - 1 Johan den Dunnen
+/. - c.952G>A r.(?) p.(Asp318Asn) Unknown - pathogenic g.22127176C>T - - - MAPK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.953A>G r.(?) p.(Asp318Gly) Unknown ACMG pathogenic (dominant) g.22127175T>C g.21772886T>C - - MAPK1_000006 ACMG PS2, PS3, PM1, PM2, PP2, PP3 PubMed: Motta 2020, Journal: Motta 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Motta 2020, Journal: Motta 2020 - M no - white - - - - 1 Johan den Dunnen
+?/. - c.963C>G r.(?) p.(Asp321Glu) Unknown - likely pathogenic g.22127165G>C - MAPK1(NM_002745.5):c.963C>G (p.D321E) - MAPK1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.964G>C r.(?) p.(Glu322Gln) Unknown ACMG pathogenic (dominant) g.22127164C>G g.21772875C>G - - MAPK1_000005 ACMG PS2, PS3, PM1, PM2, PM5, PP2, PP3 PubMed: Motta 2020, Journal: Motta 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Motta 2020, Journal: Motta 2020 - M - - white - - - - 1 Johan den Dunnen
+/. - c.968C>G r.(?) p.(Pro323Arg) Unknown ACMG pathogenic (dominant) g.22123608G>C g.21769319G>C - - MAPK1_000004 ACMG PS2, PS3, PM1, PM2, PP2, PP3 PubMed: Motta 2020, Journal: Motta 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Motta 2020, Journal: Motta 2020 - M - - white - - - - 1 Johan den Dunnen
-?/. - c.*9+128A>T r.(=) p.(=) Unknown - likely benign g.22123356T>A - MAPK1(NM_138957.3):c.*137A>T - MAPK1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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