All transcript variants in gene SLITRK1

Information The variants shown are described using the NM_052910.1 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.1089C>T r.(?) p.(Asn363=) - likely benign g.84454554G>A g.83880419G>A SLITRK1(NM_052910.2):c.1089C>T (p.N363=) - SLITRK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1263C>A r.(?) p.(Asn421Lys) - VUS g.84454380G>T g.83880245G>T SLITRK1(NM_052910.1):c.1263C>A (p.(Asn421Lys)) - SLITRK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1270G>A r.(?) p.(Asp424Asn) - VUS g.84454373C>T g.83880238C>T SLITRK1(NM_052910.1):c.1270G>A (p.(Asp424Asn)) - SLITRK1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1402A>G r.(?) p.(Asn468Asp) - likely benign g.84454241T>C g.83880106T>C SLITRK1(NM_052910.2):c.1402A>G (p.N468D) - SLITRK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1445T>C r.(?) p.(Leu482Pro) - VUS g.84454198A>G g.83880063A>G SLITRK1(NM_052910.2):c.1445T>C (p.L482P) - SLITRK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*1134T>C r.(=) p.(=) - - g.84452418A>G g.83878283A>G - - SLITRK1_000005 133 heterozygous; Clinindb (India) Faruq 2020, submtted - rs3737193 Germline - 133/2791 individuals - 0 - Mohammed Faruq
-?/. - c.*1134T>C r.(=) p.(=) - likely benign g.84452418A>G g.83878283A>G - - SLITRK1_000005 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs3737193 Germline - 2/2791 individuals - 0 - Mohammed Faruq
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