Variant #0000526578 (NC_000006.11:g.107040095G>A, RTN4IP1(NM_032730.4):c.750C>T)

Chromosome 6
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.107040095G>A
DNA change (hg38) g.106592220G>A
Published as RTN4IP1(NM_032730.5):c.750C>T (p.D250=)
ISCN -
DB-ID QRSL1_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
QRSL1 NM_018292.4 -?/. - c.-37462G>A r.(?) p.(=)
RTN4IP1 NM_032730.4 -?/. - c.750C>T r.(?) p.(Asp250=)