Full data view for gene SLC1A2

Information The variants shown are described using the NM_004171.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.18-5044G>A r.(=) p.(=) Unknown - likely benign g.35344107C>T g.35322560C>T SLC1A2(NM_001195728.2):c.-11+1G>A (p.(=)) - SLC1A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91C>T r.(?) p.(Arg31Trp) Unknown - VUS g.35338990G>A - SLC1A2(NM_004171.4):c.91C>T (p.R31W) - SLC1A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.236C>G r.(?) p.(Ala79Gly) Unknown - likely benign g.35336644G>C g.35315097G>C SLC1A2(NM_004171.4):c.236C>G (p.A79G) - SLC1A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.244G>C r.(?) p.(Gly82Arg) Unknown - pathogenic g.35336636C>G g.35315089C>G - - SLC1A2_000002 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - EE - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - 1 Johan den Dunnen
+/. 3 c.254T>C r.(?) p.(Leu85Pro) Unknown - pathogenic g.35336626A>G g.35315079A>G - - SLC1A2_000003 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - EE - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - 1 Johan den Dunnen
?/. - c.254T>G r.(?) p.(Leu85Arg) Unknown - VUS g.35336626A>C g.35315079A>C - - SLC1A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.388A>G r.(?) p.(Ile130Val) Unknown - VUS g.35333918T>C - SLC1A2(NM_004171.4):c.388A>G (p.I130V) - SLC1A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518G>A r.(?) p.(Arg173Gln) Unknown - likely benign g.35333788C>T - SLC1A2(NM_004171.3):c.518G>A (p.(Arg173Gln)) - SLC1A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.589G>A r.(?) p.(Val197Ile) Unknown - likely benign g.35327762C>T g.35306215C>T SLC1A2(NM_001195728.2):c.562G>A (p.(Val188Ile)) - SLC1A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607G>A r.(?) p.(Glu203Lys) Unknown - likely benign g.35327744C>T - SLC1A2(NM_004171.3):c.607G>A (p.(Glu203Lys)) - SLC1A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.668C>A r.(?) p.(Pro223Gln) Unknown - likely benign g.35327683G>T - SLC1A2(NM_004171.4):c.668C>A (p.P223Q) - SLC1A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.711G>A r.(?) p.(Lys237=) Unknown - likely benign g.35327640C>T - SLC1A2(NM_004171.3):c.711G>A (p.K237=) - SLC1A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.723C>T r.(?) p.(Asn241=) Unknown - likely benign g.35327628G>A g.35306081G>A SLC1A2(NM_004171.3):c.723C>T (p.N241=) - SLC1A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.730+19C>T r.(=) p.(=) Unknown - likely benign g.35327602G>A - SLC1A2(NM_004171.4):c.730+19C>T - SLC1A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.940G>A r.(?) p.(Gly314Arg) Unknown - VUS g.35313985C>T g.35292438C>T - - SLC1A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.982G>A r.(?) p.(Gly328Arg) Unknown - VUS g.35313943C>T - SLC1A2(NM_004171.4):c.982G>A (p.(Gly328Arg)) - SLC1A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1079G>C r.(?) p.(Gly360Ala) Unknown - VUS g.35313846C>G - SLC1A2(NM_004171.4):c.1079G>C (p.G360A) - SLC1A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1165G>A r.(?) p.(Val389Ile) Unknown - VUS g.35308425C>T g.35286878C>T - - SLC1A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1279A>T r.(?) p.(Thr427Ser) Unknown - VUS g.35308311T>A - SLC1A2(NM_004171.4):c.1279A>T (p.(Thr427Ser)) - SLC1A2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9i c.1421+1G>C r.spl p.? Unknown - pathogenic g.35302413C>G g.35280866C>G - - SLC1A2_000001 - - - - Germline - - - - - DNA SEQ-NG-I blood - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - - - M no Germany white >12y - - - 1 Saskia Wortmann-Hagemann
?/. - c.1422-6C>G r.(=) p.(=) Unknown - VUS g.35287311G>C - SLC1A2(NM_004171.3):c.1422-6C>G - SLC1A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1653+2142A>G r.(=) p.(=) Unknown - likely benign g.35284932T>C - SLC1A2(NM_004171.4):c.1653+2142A>G - SLC1A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1661T>G r.(?) p.(Leu554Arg) Unknown - VUS g.35282505A>C - SLC1A2(NM_004171.4):c.1661T>G (p.L554R) - SLC1A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6132C>T r.(=) p.(=) Unknown - likely benign g.35276309G>A - SLC1A2(NM_004171.3):c.*6132C>T (p.?) - SLC1A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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