Full data view for gene SLC18A2

Information The variants shown are described using the NM_003054.4 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.204T>G benign r.(?) p.(=) Unknown g.119003564T>G - SLC18A2(NM_003054.4):c.204T>G (p.=) - SLC18A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.329C>T likely benign r.(?) p.(Ala110Val) Unknown g.119003689C>T - SLC18A2(NM_003054.4):c.329C>T (p.A110V) - SLC18A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.583G>A VUS r.(?) p.(Gly195Ser) Unknown g.119013618G>A - SLC18A2(NM_003054.4):c.583G>A (p.(Gly195Ser)) - SLC18A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.597C>T benign r.(?) p.(=) Unknown g.119013632C>T - SLC18A2(NM_003054.4):c.597C>T (p.=) - SLC18A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.700+15C>T benign r.(=) p.(=) Unknown g.119014023C>T - SLC18A2(NM_003054.4):c.700+15C>T - SLC18A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.700+15C>T benign r.(=) p.(=) Unknown g.119014023C>T - SLC18A2(NM_003054.4):c.700+15C>T - SLC18A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.711del - r.(?) p.(Phe238Serfs*48) Both (homozygous) g.119014798del - NM_003054: c.705delC; p.G235fs - SLC18A2_000001 - PubMed: Karaca 2015 - - Germline - - - 0 - DNA SEQ-NG-I - WES ? 26539891-FamBAB3407 PubMed: Karaca 2015 2-generation family, 1 affected, unaffected heterozugous carrier parents M yes - - - 0 family structure in paper - 1 Johan den Dunnen
?/. - c.728_729del VUS r.(?) p.(Tyr243*) Unknown g.119014815_119014816del - SLC18A2(NM_003054.4):c.727_728del (p.(Tyr243Ter)) - SLC18A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1122+20T>C benign r.(=) p.(=) Unknown g.119026566T>C - SLC18A2(NM_003054.4):c.1122+20T>C - SLC18A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1122+20T>C benign r.(=) p.(=) Unknown g.119026566T>C - SLC18A2(NM_003054.4):c.1122+20T>C - SLC18A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1186+11C>T benign r.(=) p.(=) Unknown g.119027258C>T - SLC18A2(NM_003054.4):c.1186+11C>T - SLC18A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1537A>G VUS r.(?) p.(Ser513Gly) Unknown g.119036769A>G - SLC18A2(NM_003054.4):c.1537A>G (p.S513G) - SLC18A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*6058A>G likely benign r.(=) p.(=) Unknown g.119042835A>G - PDZD8(NM_173791.4):c.3409T>C (p.S1137P) - PDZD8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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