chr3:33093754:G>A Detail (hg38) (GLB1, TMPPE)

Information

Genome

Assembly Position
hg19 chr3:33,135,246-33,135,246 View the variant detail on this assembly version.
hg38 chr3:33,093,754-33,093,754

HGVS

Type Transcript Protein
RefSeq NM_000404.3:c.75+3257C>T
NM_001317040.1:c.75+3257C>T
NM_001135602.2:c.75+3257C>T
Type Transcript Protein
RefSeq NM_001039770.2:c.442C>T NP_001034859.2:p.Arg148Cys
NM_001136238.1:c.31C>T NP_001129710.1:p.Arg11Cys
Ensemble ENST00000342462.5:c.442C>T ENST00000342462.5:p.Arg148Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 611458 OMIM
HGNC 4298 HGNC
Ensembl ENSG00000170266 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11983946 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 33865 HGNC
Ensembl ENSG00000188167 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11983946 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 Gangliosidosis, Generalized GM1, Type 1 (disorder) A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbou... BeFree 21497194 Detail
Annotation

Annotations

DescrptionSourceLinks
A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic var... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr3:33,093,754-33,093,754
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8338
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
116954
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.710074046206201E-5
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