Variant #0000288399 (NC_000003.11:g.33109743_33109745del, GLB1(NM_000404.2):c.438_440del)

Chromosome 3
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.33109743_33109745del
DNA change (hg38) g.33068251_33068253del
Published as GLB1(NM_000404.3):c.438_440delTCT (p.L147del)
ISCN -
DB-ID GLB1_000022 See all 3 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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 +/. - c.438_440del r.(?) p.(Leu147del)
TMPPE NM_001039770.2 +/. - c.*24585_*24587del r.(=) p.(=)