chr3:33058221:G>A Detail (hg38) (GLB1)

Information

Genome

Assembly Position
hg19 chr3:33,099,713-33,099,713 View the variant detail on this assembly version.
hg38 chr3:33,058,221-33,058,221

HGVS

Type Transcript Protein
RefSeq NM_000404.3:c.601C>T NP_000395.2:p.Arg201Cys
NM_001317040.1:c.601C>T NP_001303969.1:p.Arg201Cys
NM_001135602.2:c.341-4672C>T
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Pathogenic Likely 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 tgv191467320 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 2017-01-20 criteria provided, multiple submitters, no conflicts GM1 gangliosidosis type 2 germline maternal not applicable unknown Detail
Pathogenic 2023-05-11 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2017-04-28 criteria provided, single submitter GM1 gangliosidosis germline Detail
Pathogenic 2016-10-30 no assertion criteria provided GM1 gangliosidosis type 3 unknown Detail
Pathogenic 2017-12-18 criteria provided, single submitter Infantile GM1 gangliosidosis inherited unknown Detail
Pathogenic 2016-10-30 no assertion criteria provided Mucopolysaccharidosis, MPS-IV-B unknown Detail
Pathogenic 2023-12-01 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis germline Detail
Pathogenic 2023-12-01 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 Gangliosidosis, Generalized GM1, Type 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) AND GM1 gangliosidosis type 2 ClinVar Detail
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) AND not provided ClinVar Detail
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) AND GM1 gangliosidosis ClinVar Detail
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) AND GM1 gangliosidosis type 3 ClinVar Detail
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) AND Infantile GM1 gangliosidosis ClinVar Detail
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) AND Mucopolysaccharidosis, MPS-IV-B ClinVar Detail
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) AND multiple conditions ClinVar Detail
NA 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
rs72555360 dbSNP
Genome
hg38
Position
chr3:33,058,221-33,058,221
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8552
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)
119652
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.343028114866446E-5
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