Variant #0000339120 (NC_000023.10:g.144904164T>C, SLITRK2(NM_032539.4):c.221T>C)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.144904164T>C
DNA change (hg38) g.145822646T>C
Published as -
ISCN -
DB-ID SLITRK2_000028
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CXorf1 NM_004709.2 ?/. - c.-5032T>C r.(?) p.(=)
SLITRK2 NM_032539.4 ?/. - c.221T>C r.(?) p.(Leu74Ser)