Variant #0000712908 (NC_000006.11:g.107050772C>T, NM_032730.4:c.646G>A (RTN4IP1))

Individual ID 00327592
Chromosome 6
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.107050772C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID RTN4IP1_000005 See all 4 reported entries
Variant remarks -
Reference PubMed: Zou 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Aude Rocatcher
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Aude Rocatcher
Date created 2021-01-24 14:27:33 +01:00 (CET)
Date last edited 2021-01-27 19:06:45 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RTN4IP1 NM_032730.4 +/. - c.646G>A r.(?) p.(Gly216Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000328807 DNA SEQ-NG - - RTN4IP1 2 Aude Rocatcher


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