All transcript variants in gene SLITRK1

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 likely benign r.(?) p.(=) g.84454554G>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 VUS r.(?) p.(Asn421Lys) g.84454380G>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 VUS r.(?) p.(Asp424Asn) g.84454373C>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 likely benign r.(?) p.(Asn468Asp) g.84454241T>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 VUS r.(?) p.(Leu482Pro) g.84454198A>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, 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs3737193 Germline - 135/2656 individuals - 0 - Mohammed Faruq
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