Variant #0000608496 (NC_000003.11:g.33109755T>C, GLB1(NM_000404.2):c.424A>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.33109755T>C
DNA change (hg38) g.33068263T>C
Published as -
ISCN -
DB-ID GLB1_000083
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLB1 NM_000404.2 ?/. - c.424A>G r.(?) p.(Lys142Glu)
TMPPE NM_001039770.2 ?/. - c.*24571A>G r.(=) p.(=)