Genomic variant #0000650742

Individual ID 00292885
Chromosome 20
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.19955473C>T
DNA change (hg38) g.19974829C>T
Published as -
ISCN -
DB-ID RIN2_000006 See all 2 reported entries
Variant remarks 5 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs41306763
Origin Germline
Segregation -
Frequency 5/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01653 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RIN2 NM_001242581.1 -?/. - c.951C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294053 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq