Full data view for gene GBE1

Information The variants shown are described using the NM_000158.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.691+2T>C r.spl? p.? Unknown - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl? p.? Unknown - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl? p.? Unknown - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl? p.? Unknown - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl? p.? Unknown - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl? p.? Unknown - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.81698005A>G g.81648854A>G - - GBE1_000027 - PubMed: Ravenscroft 2013 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - ? Fam PubMed: Ravenscroft 2013 2-generation family, 3 affected fetuses (F, 2M), unaffected heterozygous carrier parents F;M no Australia - - 0 - - 3 Johan den Dunnen
+/. - c.691+2T>C r.spl p.? Parent #2 ACMG pathogenic (recessive) g.81698005A>G g.81648854A>G - - GBE1_000027 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - DNA SEQ - - DA D18-0978 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - 1 Gianina Ravenscroft
+?/. - c.691+2T>C r.spl p.? Unknown - likely pathogenic g.81698005A>G g.81648854A>G - - GBE1_000027 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
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