Genomic variant #0000348132

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33138549G>A
DNA change (hg38) -
Published as GLB1(NM_000404.3):c.29C>T (p.P10L)
ISCN -
DB-ID GLB1_000061 See all 70 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.47396 View details
Owner VKGL-NL_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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