chr1:155204848:C>T Detail (hg19) (GBA1, LOC106627981)

Information

Genome

Assembly Position
hg19 chr1:155,204,848-155,204,848
hg38 chr1:155,235,057-155,235,057 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001171811.1:c.1288G>A NP_001165282.1:p.Gly430Ser
NM_001005741.2:c.1549G>A NP_001005741.1:p.Gly517Ser
NM_001005742.2:c.1549G>A NP_001005742.1:p.Gly517Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1993-06-15 no assertion criteria provided Gaucher disease type I germline Detail
Pathogenic 2020-02-01 criteria provided, single submitter not provided 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.1549G>A (p.Gly517Ser) AND Gaucher disease type I ClinVar Detail
NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser) AND not provided 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
rs121908301 dbSNP
Genome
hg19
Position
chr1:155,204,848-155,204,848
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser