chr1:155207997:A>T Detail (hg19) (GBA1)

Information

Genome

Assembly Position
hg19 chr1:155,207,997-155,207,997
hg38 chr1:155,238,206-155,238,206 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001005741.2:c.689T>A NP_001005741.1:p.Val230Glu
NM_001005742.2:c.689T>A NP_001005742.1:p.Val230Glu
NM_001171811.1:c.428T>A NP_001165282.1:p.Val143Glu
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 A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mut... UNIPROT 10206680 Detail
Annotation

Annotations

DescrptionSourceLinks
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. ... 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
rs381427 dbSNP
Genome
hg19
Position
chr1:155,207,997-155,207,997
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser