chr1:155238174:C>T Detail (hg38) (GBA1, LOC106627981)

Information

Genome

Assembly Position
hg19 chr1:155,207,965-155,207,965 View the variant detail on this assembly version.
hg38 chr1:155,238,174-155,238,174

HGVS

Type Transcript Protein
RefSeq NM_001005741.2:c.721G>A NP_001005741.1:p.Gly241Arg
NM_001005742.2:c.721G>A NP_001005742.1:p.Gly241Arg
NM_000157.3:c.721G>A NP_000148.2:p.Gly241Arg
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 Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 606463 OMIM
HGNC 4177 HGNC
Ensembl ENSG00000177628 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3325951 TogoVar
COSMIC COSM6058338 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-01-22 criteria provided, multiple submitters, no conflicts Gaucher disease germline Detail
Pathogenic Likely pathogenic 2023-12-12 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic criteria provided, single submitter Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Gaucher disease type III germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Gaucher disease type III germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Gaucher disease type III germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II,Gaucher disease type III germline Detail
Pathogenic 2017-11-16 criteria provided, single submitter Parkinson disease, late-onset germline Detail
Pathogenic 2023-11-20 criteria provided, single submitter Gaucher disease type I unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.445 Gaucher Disease, Type 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) AND Gaucher disease ClinVar Detail
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) AND not provided ClinVar Detail
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) AND Parkinson disease, late-onset ClinVar Detail
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) AND Gaucher disease type I 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
rs409652 dbSNP
Genome
hg38
Position
chr1:155,238,174-155,238,174
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
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)
121276
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.473696362017217E-5
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