Genomic variant #0000569169

Chromosome 20
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.19955597_19955598del
DNA change (hg38) -
Published as RIN2(NM_001242581.1):c.1075_1076del (p.(Arg359AlafsTer7))
ISCN -
DB-ID RIN2_000010
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RIN2 NM_001242581.1 -?/. - c.1075_1076del r.(?) p.(Arg359Alafs*7)