Full data view for gene GAD1

Information The variants shown are described using the NM_000817.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.-147G>A r.(?) p.(=) Unknown - benign g.171673475G>A g.170816965G>A - - GAD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.111T>C r.(?) p.(His37=) Unknown - benign g.171678625T>C g.170822115T>C GAD1(NM_000817.2):c.111T>C (p.H37=) - GAD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.111T>C r.(?) p.(His37=) Unknown - benign g.171678625T>C - GAD1(NM_000817.2):c.111T>C (p.H37=) - GAD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399T>C r.(?) p.(Asp133=) Unknown - likely benign g.171687554T>C g.170831044T>C GAD1(NM_000817.2):c.399T>C (p.D133=) - GAD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.639-1455T>A r.(=) p.(=) Unknown - pathogenic g.171699100T>A - GAD1(NM_013445.3):c.660T>A (p.C220*) - GAD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.824G>A r.(?) p.(Gly275Asp) Unknown - VUS g.171702088G>A g.170845578G>A GAD1(NM_000817.2):c.824G>A (p.(Gly275Asp)) - GAD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1002+12G>A r.(=) p.(=) Unknown - likely benign g.171702585G>A g.170846075G>A GAD1(NM_000817.2):c.1002+12G>A - GAD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1040C>T r.(?) p.(Thr347Met) Unknown - VUS g.171704223C>T g.170847713C>T GAD1(NM_000817.2):c.1040C>T (p.(Thr347Met)) - GAD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1119+1G>A r.(?) p.(335Gly_Asp373del) Both (homozygous) - pathogenic g.171704303G>A g.170847793G>A - - GAD1_000014 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 Gunnar Schmidt
-?/. - c.1184+5C>T r.spl? p.? Unknown - likely benign g.171705865C>T g.170849355C>T GAD1(NM_000817.2):c.1184+5C>T - GAD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1546dup r.(?) p.(Trp516LeufsTer64) Unknown - VUS g.171715338dup g.170858828dup GAD1(NM_000817.2):c.1546dupT (p.W516Lfs*64) - GAD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1612-3A>G r.spl? p.? Unknown - likely benign g.171716216A>G g.170859706A>G GAD1(NM_000817.2):c.1612-3A>G - GAD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1712C>G r.(?) p.(Ser571Cys) Unknown - VUS g.171716319C>G g.170859809C>G GAD1(NM_000817.2):c.1712C>G (p.(Ser571Cys)) - GAD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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