Full data view for gene GGT1

Information The variants shown are described using the NM_013430.2 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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     
+/. 1i_5i c.-428-11334_165-1164delinsGCCTGTAATCCCA r.0? p.0? Both (homozygous) - pathogenic (recessive) g.24992587_25009579delinsGCCTGTAATCCCA g.24596620_24613612delinsGCCTGTAATCCCA - - GGT1_000001 - PubMed: Darin 2018, Journal: Darin 2018 - - Germline yes - - 0 - DNA SEQ-NG-I Blood WGS glutathioninuria - PubMed: Darin 2018, Journal: Darin 2018 - M ? Sweden Turkish ancestry >15y 0 - - 2 Jorge Asin Cayuela
+/. 6 c.28_54del r.(?) p.(Leu10_Val18del) Both (homozygous) - pathogenic (recessive) g.25007076_25007102del g.24611109_24611135del - - GGT1_000003 - - - - Germline yes - - 0 - DNA SEQ-NG-I - - ? GGTemia_Fam.2 - - - no Slovakia (Slovak Republic) - - 0 - - 1 Andreas Janecke
+/. 6 c.44T>G r.(?) p.(Leu15Arg) Both (homozygous) - pathogenic g.25007092T>G g.24611125T>G - - GGT1_000002 - - - - Germline yes - - 0 - DNA SEQ-NG-I - - ? GGTemia_Fam.1 - - - no Italy - - 0 - - 1 Andreas Janecke
-?/. - c.176G>A r.(?) p.(Arg59Gln) Unknown - likely benign g.25010754G>A - GGT1(NM_001288833.2):c.176G>A (p.R59Q) - FAM211B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.898C>T r.(?) p.(Arg300Trp) Unknown - likely benign g.25019761C>T g.24623794C>T GGT1(NM_001288833.2):c.898C>T (p.R300W) - FAM211B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1028G>A r.(?) p.(Arg343His) Unknown - likely benign g.25023406G>A g.24627439G>A GGT1(NM_001032364.2):c.1028G>A (p.(Arg343His)) - FAM211B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1186G>A r.(?) p.(Ala396Thr) Unknown - VUS g.25023564G>A g.24627597G>A GGT1(NM_001288833.2):c.1186G>A (p.A396T) - FAM211B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1283G>A r.(?) p.(Ser428Asn) Unknown - likely benign g.25023893G>A g.24627926G>A GGT1(NM_001032364.2):c.1283G>A (p.(Ser428Asn)) - FAM211B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1337-3C>T r.spl? p.? Unknown - VUS g.25024045C>T g.24628078C>T GGT1(NM_001288833.2):c.1337-3C>T - FAM211B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1397G>A r.(?) p.(Arg466Gln) Unknown - likely benign g.25024108G>A g.24628141G>A GGT1(NM_001288833.2):c.1397G>A (p.R466Q) - FAM211B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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