Variant #0000689597 (NC_000006.11:g.107040160C>A, RTN4IP1(NM_032730.4):c.685G>T)

Chromosome 6
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.107040160C>A
DNA change (hg38) -
Published as RTN4IP1(NM_032730.5):c.685G>T (p.D229Y)
ISCN -
DB-ID QRSL1_000009
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) 0.00036 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
QRSL1 NM_018292.4 ?/. - c.-37397C>A r.(?) p.(=)
RTN4IP1 NM_032730.4 ?/. - c.685G>T r.(?) p.(Asp229Tyr)