chr1:155208061:G>A Detail (hg19) (GBA1, LOC106627981)

Information

Genome

Assembly Position
hg19 chr1:155,208,061-155,208,061
hg38 chr1:155,238,270-155,238,270 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000157.3:c.625C>T NP_000148.2:p.Arg209Cys
NM_001171812.1:c.478C>T NP_001165283.1:p.Arg160Cys
NM_001171811.1:c.364C>T NP_001165282.1:p.Arg122Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
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 tgv3325979 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-05-17 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2020-01-13 criteria provided, multiple submitters, no conflicts Gaucher disease germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III,Gaucher disease type II germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III,Gaucher disease type II germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III,Gaucher disease type II germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type III,Gaucher disease type II germline 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.625C>T (p.Arg209Cys) AND not provided ClinVar Detail
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) AND Gaucher disease ClinVar Detail
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) 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
rs398123532 dbSNP
Genome
hg19
Position
chr1:155,208,061-155,208,061
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1206
Mean of sample read depth (HGVD)
77.04
Standard deviation of sample read depth (HGVD)
31.59
Number of reference allele (HGVD)
2411
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1459369817578774E-4
Gene Symbol (HGVD)
GBA
East Asian Chromosome Counts (ExAC)
4698
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)
71410
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)
2.8007281893292256E-5
Genome browser