Variant #0000867114 (NC_000023.10:g.144906162C>T, SLITRK2(NM_032539.4):c.2219C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.144906162C>T
DNA change (hg38) -
Published as SLITRK2(NM_032539.4):c.2219C>T (p.T740I)
ISCN -
DB-ID SLITRK2_000026
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00024 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CXorf1 NM_004709.2 -?/. - c.-3034C>T r.(?) p.(=)
SLITRK2 NM_032539.4 -?/. - c.2219C>T r.(?) p.(Thr740Ile)