Full data view for gene GGPS1

Information The variants shown are described using the NM_001037277.1 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.43C>T r.(?) p.(Pro15Ser) Parent #1 - pathogenic (recessive) g.235498622C>T g.235335307C>T 127C>T - GGPS1_000001 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2Pat3 PubMed: Reghan Foley 2020 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.142-6dup r.(=) p.(=) Unknown - VUS g.235505320dup - GGPS1(NM_001371478.1):c.142-6dupT - GGPS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.770T>G r.(?) p.(Phe257Cys) Both (homozygous) - pathogenic (recessive) g.235505954T>G g.235342639T>G 854T>G - GGPS1_000002 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam5Pat8 PubMed: Reghan Foley 2020 2-generation family, 1 affected, unaffected parents M yes Algeria - - - - - 1 Johan den Dunnen
+/. - c.770T>G r.(?) p.(Phe257Cys) Both (homozygous) - pathogenic (recessive) g.235505954T>G g.235342639T>G 854T>G - GGPS1_000002 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam6Pat9 PubMed: Reghan Foley 2020 2-generation family, 3 affected sibs (2F, M), unaffected parents M yes Morocco - - - - - 3 Johan den Dunnen
+/. - c.770T>G r.(?) p.(Phe257Cys) Both (homozygous) - pathogenic (recessive) g.235505954T>G g.235342639T>G 854T>G - GGPS1_000002 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam6Pat10 PubMed: Reghan Foley 2020 sister F yes Morocco - - - - - 1 Johan den Dunnen
+/. - c.770T>G r.(?) p.(Phe257Cys) Both (homozygous) - pathogenic (recessive) g.235505954T>G g.235342639T>G 854T>G - GGPS1_000002 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam6Pat11 PubMed: Reghan Foley 2020 sister F yes Morocco - - - - - 1 Johan den Dunnen
+/. - c.770T>G r.(?) p.(Phe257Cys) Unknown - pathogenic g.235505954T>G - GGPS1(NM_001037277.1):c.770T>G (p.(Phe257Cys)) - GGPS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.776A>G r.(?) p.(Tyr259Cys) Parent #1 - pathogenic (recessive) g.235505960A>G g.235342645A>G 860A>G - GGPS1_000003 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1Pat1 PubMed: Reghan Foley 2020 2-generation family, affected sister/brother, unaffected parents F - Ireland;Germany;Poland - - - - - 2 Johan den Dunnen
+/. - c.776A>G r.(?) p.(Tyr259Cys) Parent #1 - pathogenic (recessive) g.235505960A>G g.235342645A>G 860A>G - GGPS1_000003 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1Pat2 PubMed: Reghan Foley 2020 brother M - Ireland;Germany;Poland - - - - - 1 Johan den Dunnen
+/. - c.781C>G r.(?) p.(Arg261Gly) Parent #2 - pathogenic (recessive) g.235505965C>G g.235342650C>G 865C>G - GGPS1_000004 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1Pat1 PubMed: Reghan Foley 2020 2-generation family, affected sister/brother, unaffected parents F - Ireland;Germany;Poland - - - - - 2 Johan den Dunnen
+/. - c.781C>G r.(?) p.(Arg261Gly) Parent #2 - pathogenic (recessive) g.235505965C>G g.235342650C>G 865C>G - GGPS1_000004 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1Pat2 PubMed: Reghan Foley 2020 brother M - Ireland;Germany;Poland - - - - - 1 Johan den Dunnen
+/. - c.781C>G r.(?) p.(Arg261Gly) Parent #2 - pathogenic (recessive) g.235505965C>G g.235342650C>G 865C>G - GGPS1_000004 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2Pat3 PubMed: Reghan Foley 2020 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261His) Both (homozygous) - pathogenic (recessive) g.235505966G>A g.235342651G>A 866G>A - GGPS1_000005 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam3Pat4 PubMed: Reghan Foley 2020 2-generation family, 3 affected sibs (2F, M), unaffected parents F - Morocco - - - - - 3 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261His) Both (homozygous) - pathogenic (recessive) g.235505966G>A g.235342651G>A 866G>A - GGPS1_000005 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam3Pat5 PubMed: Reghan Foley 2020 brother M - Morocco - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261His) Both (homozygous) - pathogenic (recessive) g.235505966G>A g.235342651G>A 866G>A - GGPS1_000005 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam3Pat6 PubMed: Reghan Foley 2020 sister F - Morocco - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261His) Both (homozygous) - pathogenic (recessive) g.235505966G>A g.235342651G>A 866G>A - GGPS1_000005 - PubMed: Reghan Foley 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam4Pat7 PubMed: Reghan Foley 2020 2-generation family, 1 affected, unaffected parents F yes China Han - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261His) Unknown - pathogenic g.235505966G>A - GGPS1(NM_001371478.1):c.782G>A (p.R261H) - GGPS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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