Full data view for gene SLITRK1

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

8 entries on 1 page. Showing entries 1 - 8.
Legend  

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.117C>T r.(?) p.(His39=) Unknown - - g.84455526G>A - SLITRK1(NM_052910.2):c.117C>T (p.H39=) - chr13_002451 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1089C>T r.(?) p.(Asn363=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1263C>A r.(?) p.(Asn421Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.1270G>A r.(?) p.(Asp424Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.1402A>G r.(?) p.(Asn468Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1445T>C r.(?) p.(Leu482Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1134T>C r.(=) p.(=) Parent #1 - likely benign g.84452418A>G g.83878283A>G - - SLITRK1_000005 133 heterozygous; Clinindb (India) Faruq 2020, submtted - rs3737193 Germline - 133/2791 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 133 Mohammed Faruq
-?/. - c.*1134T>C r.(=) p.(=) Both (homozygous) - likely benign g.84452418A>G g.83878283A>G - - SLITRK1_000005 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs3737193 Germline - 2/2791 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
Legend