Variant #0000573995 (NC_000023.10:g.144904813T>G, SLITRK2(NM_032539.4):c.870T>G)

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.144904813T>G
DNA change (hg38) g.145823295T>G
Published as SLITRK2(NM_001144003.2):c.870T>G (p.(Asn290Lys)), SLITRK2(NM_032539.4):c.870T>G (p.N290K)
ISCN -
DB-ID SLITRK2_000023 See all 2 reported entries
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) 0.0009 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.-4383T>G r.(?) p.(=)
SLITRK2 NM_032539.4 -?/. - c.870T>G r.(?) p.(Asn290Lys)