chr1:155236420:T>C Detail (hg38) (GBA1, LOC106627981)

Information

Genome

Assembly Position
hg19 chr1:155,206,211-155,206,211 View the variant detail on this assembly version.
hg38 chr1:155,236,420-155,236,420

HGVS

Type Transcript Protein
RefSeq NM_001005741.2:c.1049A>G NP_001005741.1:p.His350Arg
NM_001005742.2:c.1049A>G NP_001005742.1:p.His350Arg
NM_000157.3:c.1049A>G NP_000148.2:p.His350Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-05-01 no assertion criteria provided Gaucher disease perinatal lethal germline Detail
Likely pathogenic 2021-07-25 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 GAUCHER DISEASE, PERINATAL LETHAL NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000157.4(GBA1):c.1049A>G (p.His350Arg) AND Gaucher disease perinatal lethal ClinVar Detail
NM_000157.4(GBA1):c.1049A>G (p.His350Arg) 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
rs78198234 dbSNP
Genome
hg38
Position
chr1:155,236,420-155,236,420
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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