Variant #0000000274 (NC_000012.11:g.102159901del, GNPTAB(NM_024312.4):c.1581del)

Individual ID 00000014
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.102159901del
DNA change (hg38) g.101766123del
Published as -
ISCN -
DB-ID GNPTAB_000002 See all 2 reported entries
Variant remarks -
Reference PubMed: Bell 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 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     
GNPTAB NM_024312.4 +/. 12 c.1581del r.(?) p.(Cys528Valfs*19)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000014 DNA SEQ-NG - - ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, SERPINA1, SFTPB, SGSH, TSFM 22 Global Variome, with Curator vacancy