Genomic variant #0000484271

Individual ID 00239141
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.19970825del
DNA change (hg38) -
Published as NM_018993.3:c.1938delT
ISCN -
DB-ID RIN2_000003 See all 5 reported entries
Variant remarks -
Reference PubMed: Shaukat 2019
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 Sadaf Naz
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RIN2 NM_001242581.1 +?/. - c.2085del r.(?) p.(Asp696Ilefs*13)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000240245 DNA SEQ-NG - - BBS7, RIN2 2 Sadaf Naz