chr3:33059977:T>C Detail (hg19) (GLB1)

Information

Genome

Assembly Position
hg19 chr3:33,059,977-33,059,977
hg38 chr3:33,018,485-33,018,485 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000404.3:c.1310A>G NP_000395.2:p.Asn437Ser
NM_001317040.1:c.1310A>G NP_001303969.1:p.Asn437Ser
NM_001135602.2:c.917A>G NP_001129074.1:p.Asn306Ser
Summary

MGeND

Clinical significance
Variant entry
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:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv11981679 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2017-09-29 criteria provided, single submitter GM1 gangliosidosis type 3,Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis unknown Detail
Likely benign 2017-09-29 criteria provided, single submitter GM1 gangliosidosis type 3,Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis unknown Detail
Likely benign 2017-09-29 criteria provided, single submitter GM1 gangliosidosis type 3,Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis unknown Detail
Likely benign 2017-09-29 criteria provided, single submitter GM1 gangliosidosis type 3,Mucopolysaccharidosis, MPS-IV-B,GM1 gangliosidosis type 2,Infantile GM1 gangliosidosis unknown Detail
Likely benign 2024-01-29 criteria provided, single submitter GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B germline Detail
Likely benign 2024-01-29 criteria provided, single submitter GM1 gangliosidosis,Mucopolysaccharidosis, MPS-IV-B germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter GM1 gangliosidosis germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter Mucopolysaccharidosis, MPS-IV-B germline Detail
Benign 2022-03-03 criteria provided, single submitter not specified germline Detail
Likely benign 2021-07-28 criteria provided, single submitter GLB1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.367 mucopolysaccharidosis type IVB NA CLINVAR Detail
0.362 Gangliosidosis, Generalized GM1, Type 1 (disorder) NA CLINVAR Detail
0.441 Gangliosidosis, Generalized GM1, Type 2 NA CLINVAR Detail
0.361 Gangliosidosis, Generalized GM1, Type 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) AND multiple conditions ClinVar Detail
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) AND GM1 gangliosidosis ClinVar Detail
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) AND Mucopolysaccharidosis, MPS-IV-B ClinVar Detail
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) AND not specified ClinVar Detail
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) AND GLB1-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET 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
rs202237232 dbSNP
Genome
hg19
Position
chr3:33,059,977-33,059,977
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs202237232
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))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
5
East Asian Heterozygous Counts (ExAC)
5
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
5.796429399489915E-4
Chromosome Counts in All Race (ExAC)
120770
Allele Counts in All Race (ExAC)
96
Heterozygous Counts in All Race (ExAC)
94
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
7.948993955452513E-4
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