Genomic variant #0000001022

Individual ID 00000079
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.89914907del
DNA change (hg38) g.90619090del
Published as -
ISCN -
DB-ID GPR98_010005
Variant remarks -
Reference -
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 Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
GPR98 NM_032119.3 +?/. 4 c.362del r.(?) p.(Pro121Leufs*5) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000079 DNA SEQ-NG - - CDH23, GPR98, NHLRC1, NPHS1, SERPINA1 5 LOVD-team, but with Curator vacancy