Genomic variant #0000569176

Chromosome 20
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.19955713G>C
DNA change (hg38) -
Published as RIN2(NM_001242581.1):c.1191G>C (p.L397=)
ISCN -
DB-ID RIN2_000017
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.02065 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RIN2 NM_001242581.1 -/. - c.1191G>C r.(?) p.(=)