Full data view for gene POMK

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_032237.4 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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>G r.(?) p.? Unknown - VUS g.42958692A>G - POMK(NM_032237.5):c.1A>G (p.(Met1?)) - POMK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.136C>T r.(?) p.(Arg46*) Maternal (confirmed) - likely pathogenic g.42958827C>T g.43103684C>T - - POMK_000005 - PubMed: Strang-Karlsson 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG Blood WES ? - PubMed: Strang-Karlsson 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no Finland white - - yes no 2 Sonja Strang-Karlsson
+?/. 4 c.136C>T r.(?) p.(Arg46*) Maternal (confirmed) - likely pathogenic g.42958827C>T g.43103684C>T - - POMK_000005 - PubMed: Strang-Karlsson 2018 - - Germline yes - - - - DNA SEQ blood WES ? - PubMed: Strang-Karlsson 2018 sister to #0000145262 F no Finland white - - - no 1 Sonja Strang-Karlsson
+/. - c.136C>T r.(?) p.(Arg46Ter) Unknown - pathogenic g.42958827C>T g.43103684C>T POMK(NM_032237.5):c.136C>T (p.R46*) - POMK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.136C>T r.(?) p.(Arg46*) Parent #2 - likely pathogenic (recessive) g.42958827C>T g.43103684C>T - - POMK_000005 - PubMed: Johnson 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDDG Pat15 PubMed: Johnson 2018 - M - - white - - - - 1 Johan den Dunnen
+?/. - c.136C>T r.(?) p.(Arg46*) Parent #2 - likely pathogenic (recessive) g.42958827C>T g.43103684C>T - - POMK_000005 - PubMed: Johnson 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDDG Pat16 PubMed: Johnson 2018 - F - - white - - - - 1 Johan den Dunnen
+?/. - c.136C>T r.(?) p.(Arg46*) Unknown - likely pathogenic g.42958827C>T g.43103684C>T - - POMK_000005 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+/? 5 c.325C>T r.(?) p.(Gln109*) Both (homozygous) - pathogenic g.42977292C>T g.43122149C>T - - POMK_000003 - PubMed: von Renesse - - Germline yes - - - - DNA arraySNP, SEQ, SEQ-NG-I - - MDC - PubMed: von Renesse 2-generation family, 2 affecteds (sister/brother) - yes Lebanon - - - - - 2 Johan den Dunnen
+/? 5 c.410T>G r.(?) p.(Leu137Arg) Parent #1 - pathogenic g.42977377T>G g.43122234T>G - - POMK_000001 - PubMed: Jae 2013, OMIM:var0001 - - Germline yes - - - - DNA SEQ - - WWS - PubMed: Jae 2013 2-generation family, 1 affected, unaffected carrier parents ? no - - - - - - 3 Johan den Dunnen
+/? 5 c.410T>G r.(?) p.Leu137Arg Unknown - NA g.42977377T>G g.43122234T>G - - POMK_000001 expression cloning neither restored alpha-DG glycosylation nor enhanced susceptibility to infection with rVSV-GP-LASV PubMed: Jae 2013, OMIM:var0001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.410T>G r.(?) p.(Leu137Arg) Parent #1 - pathogenic g.42977377T>G g.43122234T>G - - POMK_000001 - PubMed: Jae 2013, OMIM:var0001 - - Unknown yes - - - - DNA SEQ - - Healthy/Control - PubMed: Jae 2013 2-generation family, unaffected carrier parent ? no - - - - - - 1 Johan den Dunnen
-?/. - c.564C>T r.(?) p.(Ile188=) Unknown - likely benign g.42977531C>T - POMK(NM_032237.4):c.564C>T (p.I188=) - POMK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.599G>T r.(?) p.(Arg200Leu) Unknown - likely benign g.42977566G>T - POMK(NM_001277971.1):c.599G>T (p.(Arg200Leu)) - POMK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.624G>C r.(?) p.(Leu208=) Unknown - benign g.42977591G>C g.43122448G>C POMK(NM_032237.5):c.624G>C (p.L208=, p.(Leu208=)) - POMK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.624G>C r.(?) p.(Leu208=) Unknown - benign g.42977591G>C - POMK(NM_032237.5):c.624G>C (p.L208=, p.(Leu208=)) - POMK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.626C>T r.(?) p.(Pro209Leu) Unknown - VUS g.42977593C>T - POMK(NM_001277971.1):c.626C>T (p.(Pro209Leu)) - POMK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.714C>T r.(?) p.(Ser238=) Unknown - benign g.42977681C>T g.43122538C>T POMK(NM_032237.5):c.714C>T (p.S238=) - POMK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.759C>T r.(?) p.(Phe253=) Unknown - likely benign g.42977726C>T - POMK(NM_032237.4):c.759C>T (p.F253=) - POMK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.773A>G r.(?) p.(Gln258Arg) Parent #2 - pathogenic g.42977740A>G g.43122597A>G - - POMK_000002 - PubMed: Jae 2013, OMIM:var0002 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Jae 2013 2-generation family, 1 affected, unaffected carrier parents ? no - - - - - - 3 Johan den Dunnen
+/? 5 c.773A>G r.(?) p.Gln258Arg Unknown - NA g.42977740A>G g.43122597A>G - - POMK_000002 expression cloning neither restored alpha-DG glycosylation nor enhanced susceptibility to infection with rVSV-GP-LASV PubMed: Jae 2013, OMIM:var0002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.773A>G r.(?) p.(Gln258Arg) Parent #1 - pathogenic g.42977740A>G g.43122597A>G - - POMK_000002 - PubMed: Jae 2013, OMIM:var0002 - - Unknown yes - - - - DNA SEQ - - Healthy/Control - PubMed: Jae 2013 2-generation family, unaffected carrier parent ? no - - - - - - 1 Johan den Dunnen
?/. - c.773A>G r.(?) p.(Gln258Arg) Unknown - VUS g.42977740A>G g.43122597A>G POMK(NM_032237.5):c.773A>G (p.Q258R) - POMK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.773A>G r.(?) p.(Gln258Arg) Unknown - likely pathogenic g.42977740A>G g.43122597A>G POMK(NM_032237.5):c.773A>G (p.Q258R) - POMK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.882G>A r.(?) p.(Gly294=) Unknown - likely benign g.42977849G>A - POMK(NM_032237.4):c.882G>A (p.G294=) - POMK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.907C>T r.(?) p.(Arg303Ter) Unknown - likely pathogenic g.42977874C>T g.43122731C>T - - POMK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.965C>T r.(?) p.(Pro322Leu) Paternal (confirmed) - likely pathogenic g.42977932C>T g.43122789C>T - - POMK_000006 - PubMed: Strang-Karlsson 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG Blood WES ? - PubMed: Strang-Karlsson 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no Finland white - - yes no 2 Sonja Strang-Karlsson
+?/. 5 c.965C>T r.(?) p.(Pro322Leu) Paternal (confirmed) - likely pathogenic g.42977932C>T g.43122789C>T - - POMK_000006 - PubMed: Strang-Karlsson 2018 - - Germline yes - - - - DNA SEQ blood WES ? - PubMed: Strang-Karlsson 2018 sister to #0000145262 F no Finland white - - - no 1 Sonja Strang-Karlsson
+?/. - c.965C>T r.(?) p.(Pro322Leu) Parent #1 - likely pathogenic (recessive) g.42977932C>T g.43122789C>T - - POMK_000006 - PubMed: Johnson 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDDG Pat15 PubMed: Johnson 2018 - M - - white - - - - 1 Johan den Dunnen
+?/. - c.965C>T r.(?) p.(Pro322Leu) Parent #1 - likely pathogenic (recessive) g.42977932C>T g.43122789C>T - - POMK_000006 - PubMed: Johnson 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDDG Pat16 PubMed: Johnson 2018 - F - - white - - - - 1 Johan den Dunnen
+?/. - c.965C>T r.(?) p.(Pro322Leu) Unknown - likely pathogenic g.42977932C>T g.43122789C>T - - POMK_000006 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+?/. - c.993C>G r.(?) p.(Tyr331*) Both (homozygous) ACMG likely pathogenic g.42977960C>G g.43122817C>G - - POMK_000004 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDGA12 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
-?/. - c.1013T>G r.(?) p.(Leu338Arg) Unknown - likely benign g.42977980T>G - POMK(NM_032237.5):c.1013T>G (p.L338R) - POMK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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