chr3:33114129:A>G Detail (hg19) (GLB1)

Information

Genome

Assembly Position
hg19 chr3:33,114,129-33,114,129
hg38 chr3:33,072,637-33,072,637 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000404.3:c.152T>C NP_000395.2:p.Ile51Thr
NM_001317040.1:c.152T>C NP_001303969.1:p.Ile51Thr
NM_001135602.2:c.152T>C NP_001129074.1:p.Ile51Thr
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
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 tgv11983271 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1992-03-01 no assertion criteria provided GM1 gangliosidosis type 3 germline Detail
Pathogenic 2017-11-27 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis unknown Detail
Pathogenic 2017-11-27 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis unknown Detail
Pathogenic 2017-11-27 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis unknown Detail
Pathogenic 2017-11-27 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 3,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis unknown Detail
not provided no assertion provided Infantile GM1 gangliosidosis germline Detail
Pathogenic 2021-06-03 criteria provided, single submitter GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B germline Detail
Pathogenic 2021-06-03 criteria provided, single submitter GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.361 Gangliosidosis, Generalized GM1, Type 3 NA CLINVAR Detail
0.149 Gangliosidosis GM1 The 51Ile----Thr mutant allele expressed a significant amount of beta-galactosid... BeFree 1353343 Detail
0.149 Gangliosidosis GM1 In this report, we describe the enzymological properties of purified recombinant... BeFree 24737316 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) AND GM1 gangliosidosis type 3 ClinVar Detail
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) AND Infantile GM1 gangliosidosis ClinVar Detail
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
The 51Ile----Thr mutant allele expressed a significant amount of beta-galactosidase activity, wherea... DisGeNET Detail
In this report, we describe the enzymological properties of purified recombinant human β-Gal(WT) and... 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
-
dbSNP
rs72555390 dbSNP
Genome
hg19
Position
chr3:33,114,129-33,114,129
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs72555390
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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