Genomic variant #0000097122

Individual ID 00065282
Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
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) Variant not found in online data sets
Owner Pieter Klap
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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     
0000065434 DNA SEQ - - RTN4IP1 2 Pieter Klap