Full data view for gene SLC18A2

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

14 entries on 1 page. Showing entries 1 - 14.
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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.204T>G r.(?) p.(Thr68=) Unknown - benign g.119003564T>G g.117244053T>G SLC18A2(NM_003054.6):c.204T>G (p.T68=) - SLC18A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.255G>A r.(?) p.(Ser85=) Unknown - likely benign g.119003615G>A g.117244104G>A SLC18A2(NM_003054.6):c.255G>A (p.S85=) - SLC18A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329C>T r.(?) p.(Ala110Val) Unknown - likely benign g.119003689C>T g.117244178C>T SLC18A2(NM_003054.6):c.329C>T (p.A110V) - SLC18A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.583G>A r.(?) p.(Gly195Ser) Unknown - VUS g.119013618G>A g.117254107G>A SLC18A2(NM_003054.4):c.583G>A (p.(Gly195Ser)) - SLC18A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.597C>T r.(?) p.(Ser199=) Unknown - benign g.119013632C>T g.117254121C>T SLC18A2(NM_003054.6):c.597C>T (p.S199=) - SLC18A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.700+15C>T r.(=) p.(=) Unknown - benign g.119014023C>T g.117254512C>T SLC18A2(NM_003054.6):c.700+15C>T - SLC18A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.700+15C>T r.(=) p.(=) Unknown - benign g.119014023C>T g.117254512C>T SLC18A2(NM_003054.6):c.700+15C>T - SLC18A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.711del r.(?) p.(Phe238Serfs*48) Both (homozygous) - pathogenic g.119014798del g.117255287del 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 r.(?) p.(Tyr243Ter) Unknown - VUS g.119014815_119014816del g.117255304_117255305del SLC18A2(NM_003054.4):c.727_728del (p.(Tyr243Ter)) - SLC18A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1122+20T>C r.(=) p.(=) Unknown - benign g.119026566T>C g.117267055T>C SLC18A2(NM_003054.6):c.1122+20T>C - SLC18A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1122+20T>C r.(=) p.(=) Unknown - benign g.119026566T>C g.117267055T>C SLC18A2(NM_003054.6):c.1122+20T>C - SLC18A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1186+11C>T r.(=) p.(=) Unknown - benign g.119027258C>T g.117267747C>T SLC18A2(NM_003054.6):c.1186+11C>T - SLC18A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1537A>G r.(?) p.(Ser513Gly) Unknown - VUS g.119036769A>G g.117277258A>G SLC18A2(NM_003054.6):c.1537A>G (p.S513G) - SLC18A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*6058A>G r.(=) p.(=) Unknown - likely benign g.119042835A>G g.117283324A>G PDZD8(NM_173791.5):c.3409T>C (p.S1137P) - PDZD8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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