Genomic variant #0000001724

Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.17171119C>T
DNA change (hg38) g.17129120C>T
Published as -
ISCN -
DB-ID CUBN_000009
Variant remarks 1 Pakistani MGA1 family (com-het)
Reference PubMed: Tanner et al. 2012
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CUBN NM_001081.3 +?/+? 02i c.252+1G>A - r.spl? p.?