Genomic variant #0000487459

Individual ID 00240376
Chromosome 15
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.55647576A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID PIGB_000008
Variant remarks -
Reference PubMed: Murakami 2019, Journal: Murakami 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Philippe Campeau




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PIGB NM_004855.4 +/+ - c.1611A>G pathogenic (recessive) r.(1611a>g) p.(Ile537Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241486 DNA SEQ-NG - - - 2 Philippe Campeau