chr1:155240629:C>A Detail (hg38) (GBA1)

Information

Genome

Assembly Position
hg19 chr1:155,210,420-155,210,420 View the variant detail on this assembly version.
hg38 chr1:155,240,629-155,240,629

HGVS

Type Transcript Protein
RefSeq NM_001005741.2:c.115+1G>T
NM_001005742.2:c.115+1G>T
NM_000157.3:c.115+1G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.445 Gaucher Disease, Type 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs104886460 dbSNP
Genome
hg38
Position
chr1:155,240,629-155,240,629
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser