chr3:33097085:T>G Detail (hg38) (GLB1, TMPPE, LOC129936434)

Information

Genome

Assembly Position
hg19 chr3:33,138,577-33,138,577 View the variant detail on this assembly version.
hg38 chr3:33,097,085-33,097,085

HGVS

Type Transcript Protein
RefSeq NM_000404.3:c.1A>C NP_000395.2:p.?
NM_001317040.1:c.1A>C NP_001303969.1:p.?
NM_001135602.2:c.1A>C NP_001129074.1:p.?
Type Transcript Protein
RefSeq NM_001039770.2:c.-475A>C
Ensemble ENST00000342462.5:c.-475A>C
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 611458 OMIM
HGNC 4298 HGNC
Ensembl ENSG00000170266 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv317362395 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 33865 HGNC
Ensembl ENSG00000188167 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv317362395 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-04-30 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 Gangliosidosis, Generalized GM1, Type 1 (disorder) NA CLINVAR Detail
0.441 Gangliosidosis, Generalized GM1, Type 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000404.4(GLB1):c.1A>C (p.Met1Leu) AND not provided ClinVar Detail
NA DisGeNET 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
rs794726886 dbSNP
Genome
hg38
Position
chr3:33,097,085-33,097,085
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser