Variant #0000097120 (NC_000006.11:g.107067096T>A, RTN4IP1(NM_032730.4):c.601A>T)

Individual ID 00065281
Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.107067096T>A
DNA change (hg38) g.106619221T>A
Published as -
ISCN -
DB-ID RTN4IP1_000002 See all 2 reported entries
Variant remarks -
Reference PubMed: Angebault 2015, Journal: Angebault 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 1.0E-5 View details
Owner Pieter Klap
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RTN4IP1 NM_032730.4 +/. 4 c.601A>T r.(?) p.(Lys201*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065433 DNA SEQ - - RTN4IP1 2 Pieter Klap