chr17:78087116:C> Detail (hg19) (GAA)

Information

Genome

Assembly Position
hg19 chr17:78,087,116-78,087,116
hg38 chr17:80,113,317-80,113,317 

HGVS

Type Transcript Protein
RefSeq NM_001079803.2:c.2140delC NP_001073271.1:p.His714ThrfsTer50
NM_001079804.2:c.2140delC NP_001073272.1:p.His714ThrfsTer50
NM_000152.4:c.2140delC NP_000143.2:p.His714ThrfsTer50
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 606800 OMIM
HGNC 4065 HGNC
Ensembl ENSG00000171298 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 2020-02-14 reviewed by expert panel Glycogen storage disease, type II germline unknown Detail
Pathogenic 2015-08-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.499 Glycogen storage disease type II NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000152.5(GAA):c.2140del (p.His714fs) AND Glycogen storage disease, type II ClinVar Detail
NM_000152.5(GAA):c.2140del (p.His714fs) 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
rs786204549 dbSNP
Genome
hg19
Position
chr17:78,087,116-78,087,116
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser