Full data view for gene GBE1

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

6 entries on 1 page. Showing entries 1 - 6.
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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.176T>C r.(?) p.(Ile59Thr) Unknown - likely benign g.81754732A>G g.81705581A>G GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.L59P, p.I59T), GBE1(NM_000158.4):c.176T>C (p.I59T) - GBE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176T>C r.(?) p.(Ile59Thr) Unknown - likely benign g.81754732A>G g.81705581A>G GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.L59P, p.I59T), GBE1(NM_000158.4):c.176T>C (p.I59T) - GBE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176T>C r.(?) p.(Ile59Thr) Unknown - likely benign g.81754732A>G g.81705581A>G GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.L59P, p.I59T), GBE1(NM_000158.4):c.176T>C (p.I59T) - GBE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176T>C r.(?) p.(Ile59Thr) Parent #1 - likely benign g.81754732A>G g.81705581A>G - - GBE1_000018 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28763904 Germline - 3/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.176T>C r.(?) p.(Ile59Thr) Unknown - VUS g.81754732A>G - GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.L59P, p.I59T), GBE1(NM_000158.4):c.176T>C (p.I59T) - GBE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176T>C r.(?) p.(Ile59Thr) Unknown - likely benign g.81754732A>G - GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.L59P, p.I59T), GBE1(NM_000158.4):c.176T>C (p.I59T) - GBE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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