Variant #0000335812 (NC_000023.10:g.144909459G>T, SLITRK2(NM_032539.4):c.*2978G>T)

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.144909459G>T
DNA change (hg38) g.145827941G>T
Published as TMEM257(NM_004709.2):c.264G>T (p.(Met88Ile))
ISCN -
DB-ID CXorf1_000009
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) 0.00028 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CXorf1 NM_004709.2 ?/. - c.264G>T r.(?) p.(Met88Ile)
SLITRK2 NM_032539.4 ?/. - c.*2978G>T r.(=) p.(=)