Full data view for gene FKRP

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_024301.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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     
?/. 4 c.(341C>G) r.(?) p.(Ala114Gly) Parent #1 - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Brockington 2001 - - Germline - - - - - DNA SEQ - - MDC Fam6 PubMed: Brockington 2001 reported as normal by others F - France - >25y - - - 1 Johan den Dunnen
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Unknown - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 4 c.341C>G r.(?) p.(Ala114Gly) Paternal (confirmed) - pathogenic (recessive) g.47259048C>G g.46755791C>G - - FKRP_000016 - Nevo ESHG2008 P01.202 - - Germline - - - - - DNA SEQ - - MDC ? Nevo ESHG2008 P01.202 daugther of Nevo_P2/P3 ? - (Israel) - - - - - 1 Johan den Dunnen
-/. 4 c.341C>G r.(?) p.(Ala114Gly) Paternal (confirmed) - benign g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Driss, PubMed: Driss - - Germline - - - - - DNA SEQ - - LGMD2 ? PubMed: Driss, PubMed: Driss, OMIM:var0006 13 affecteds, originally used to map this locus (Driss 2000) - yes Tunisia - - - - - 13 Johan den Dunnen
-/. 4 c.341C>G r.(?) p.(Ala114Gly) Maternal (confirmed) - benign g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Driss, PubMed: Driss - - Germline - - - - - DNA SEQ - - LGMD2 ? PubMed: Driss, PubMed: Driss, OMIM:var0006 13 affecteds, originally used to map this locus (Driss 2000) - yes Tunisia - - - - - 13 Johan den Dunnen
-/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - benign g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Driss - - Germline - - - - - DNA SEQ - - - ? PubMed: Driss - - - Tunisia - - - - - 1 Johan den Dunnen
-/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #2 - benign g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Driss - - Germline - - - - - DNA SEQ - - - ? PubMed: Driss - - - Tunisia - - - - - 1 Johan den Dunnen
-/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - benign g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Driss - - Germline - 4/170 - - - DNA SEQ - - - ? PubMed: Driss - - - Tunisia - - - - - 4 Johan den Dunnen
+/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - pathogenic (recessive) g.47259048C>G g.46755791C>G - - FKRP_000016 - Ginjaar WMS2005 - - Germline - - - - - DNA SEQ - - LGMD ? Ginjaar WMS2005 no consanguinity - - Netherlands - - - - - 3 Ieke Ginjaar
+/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - pathogenic (recessive) g.47259048C>G g.46755791C>G - - FKRP_000016 - Ginjaar WMS2005 - - Germline - - - - - DNA SEQ - - LGMD ? Ginjaar WMS2005 - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - pathogenic (recessive) g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Mercuri 2006 - - Germline - - - - - DNA SSCA - - MEB Pat11 PubMed: Mercuri 2006 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #2 - pathogenic (recessive) g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Mercuri 2006 - - Germline - - - - - DNA SSCA - - MEB Pat11 PubMed: Mercuri 2006 - - - - - - - - - 1 Johan den Dunnen
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - - - - Germline - - - - - DNA DHPLC, SEQ - - ? ? - - M - United States - - - - - 1 Akanchha Kesari
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - - - - Germline - - - - - DNA SEQ - - LGMD2 ? - - F - Germany - - - - - 1 Lab Müller-Reible
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Unknown - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - Ginjaar WMS2005 - - Germline - - - - - DNA SEQ - - LGMD ? Ginjaar WMS2005, PubMed: Ten Dam 2019 - F yes Netherlands - - - - - 1 Ieke Ginjaar
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Unknown - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - Ginjaar WMS2005 - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Netherlands - >13y - - - 1 Ieke Ginjaar
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Unknown - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - Ginjaar WMS2005 - - Germline - - - - - DNA SEQ - - LGMD ? Ginjaar WMS2005, PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Unknown - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - Ginjaar WMS2005 - - Germline - - - - - DNA SEQ - - LGMD ? Ginjaar WMS2005, PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Netherlands - - - - - 1 Ieke Ginjaar
-/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - benign g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Boito 2005 - - Germline - 1/100 - - - DNA SEQ - - - ? PubMed: Boito 2005 - - - Italy - - - - - 1 Johan den Dunnen
-/. 4 c.341C>G r.(?) p.(Ala114Gly) Maternal (confirmed) - benign g.47259048C>G g.46755791C>G - - FKRP_000016 - - - - Germline - - - - - DNA SEQ - - - ? - - - - Germany - - - - - 2 Lab Müller-Reible
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Unknown - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - Nevo ESHG2008 P01.202 - - Germline - - - - - DNA SEQ - - - Nevo_P3 Nevo ESHG2008 P01.202 mother of Nevo_P2 F - (Israel) - - - - - 1 Johan den Dunnen
-?/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - likely benign g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ - - LIS ? PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - 1 Johan den Dunnen
-?/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - likely benign g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Bouchet 2007 - - Germline - 2/212 - - - DNA SEQ - - - ? PubMed: Bouchet 2007 - - - France - - - - - 2 Johan den Dunnen
+/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - pathogenic (recessive) g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Manzini 2008 - - Germline - - - - - DNA SEQ - - WWS P10 PubMed: Manzini 2008 - ? no United States white - - - - 1 Rosário dos Santos
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - - - - Germline - 2/104 - - - DNA SEQ - - ? ? - - - - Netherlands - - - - - 2 Ieke Ginjaar
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - ? - Netherlands - - - - - 1 Ieke Ginjaar
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Unknown - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - ? - Netherlands - - - - - 1 Ieke Ginjaar
+/. 4 c.341C>G r.(?) p.(Ala114Gly) Unknown - pathogenic (recessive) g.47259048C>G g.46755791C>G - - FKRP_000016 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.341C>G r.(?) p.(Ala114Gly) Unknown - likely benign g.47259048C>G g.46755791C>G FKRP(NM_001039885.2):c.341C>G (p.A114G, p.(Ala114Gly)), FKRP(NM_001039885.3):c.341C>G (p.A114G) - FKRP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.341C>G r.(?) p.(Ala114Gly) Unknown - likely benign g.47259048C>G g.46755791C>G FKRP(NM_001039885.2):c.341C>G (p.A114G, p.(Ala114Gly)), FKRP(NM_001039885.3):c.341C>G (p.A114G) - FKRP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.341C>G r.(?) p.(Ala114Gly) Parent #1 - pathogenic (recessive) g.47259048C>G g.46755791C>G - - FKRP_000016 unknown variant 2nd chromosome PubMed: Mercuri 2009 - - Germline - - - - - DNA SEQ - - MDC 19299310-Pat37 PubMed: Mercuri 2009 - - - Italy - - - - - 1 Johan den Dunnen
?/. - c.341C>G r.(?) p.(Ala114Gly) Parent #2 - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - Journal: Reynhout 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES SEMDSP -Pat6 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Finland - - - - - 1 Johan den Dunnen
-/. - c.341C>G r.(?) p.(Ala114Gly) Unknown - benign g.47259048C>G g.46755791C>G FKRP(NM_001039885.2):c.341C>G (p.A114G, p.(Ala114Gly)), FKRP(NM_001039885.3):c.341C>G (p.A114G) - FKRP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341C>G r.(?) p.(Ala114Gly) Unknown - VUS g.47259048C>G g.46755791C>G FKRP(NM_001039885.2):c.341C>G (p.A114G, p.(Ala114Gly)), FKRP(NM_001039885.3):c.341C>G (p.A114G) - FKRP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.341C>G r.(?) p.(Ala114Gly) Unknown - benign g.47259048C>G g.46755791C>G FKRP(NM_001039885.2):c.341C>G (p.A114G, p.(Ala114Gly)), FKRP(NM_001039885.3):c.341C>G (p.A114G) - FKRP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341C>G r.(?) p.(Ala114Gly) Parent #1 - VUS g.47259048C>G g.46755791C>G - - FKRP_000016 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - DNA SEQ, SEQ-NG - gene panel LGMD Pat34 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - - - - 1 Johan den Dunnen
-?/. - c.341C>G r.(?) p.(Ala114Gly) Unknown - likely benign g.47259048C>G - FKRP(NM_001039885.2):c.341C>G (p.A114G, p.(Ala114Gly)), FKRP(NM_001039885.3):c.341C>G (p.A114G) - FKRP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.341C>G r.(?) p.(Ala114Gly) Unknown - VUS g.47259048C>G - - - FKRP_000016 - Luce 2021, submitted - - Unknown - - - - - DNA SEQ-NG-I BLOOD - MD #323 Luce 2021, submitted - M - Argentina - - - - - 1 Florencia Giliberto
+?/. - c.341C>G r.(?) p.(Ala114Gly) Unknown - likely pathogenic g.47259048C>G - - - FKRP_000016 - PubMed: Macias 2021 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat191;A6(II2) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 3 affected sibs (F, 2M) M - Poland - - - - - 3 Johan den Dunnen
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