Genomic variant #0000096544

Individual ID 00064751
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1735987T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID GNB1_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Petrovski 2016, Journal: Petrovski 2016
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency 1/5855 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GNB1 NM_002074.3 +/. 7 c.301A>G - r.(?) p.(Met101Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000064890 DNA SEQ;SEQ-NG - - GNB1 1 Johan den Dunnen