Genomic variant #0000000984

Individual ID 00000076
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33138549G>A
DNA change (hg38) g.33097057G>A
Published as -
ISCN -
DB-ID GLB1_000061 See all 70 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.47396 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GLB1 NM_000404.2 ?/. - c.29C>T - r.(?) p.(Pro10Leu)
TMPPE NM_001039770.2 ./. - c.-447C>T - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000076 DNA SEQ-NG - - ATP7B, BCKDHA, FKRP, GAA, GLB1, HSD17B4, IGHMBP2, MEFV, NHLRC1, NPHS1, PMM2, POMGNT1, PPT1, SERPINA1, SLC26A2 17 LOVD-team, but with Curator vacancy