chr5:172410774:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr5:172,410,774-172,462,448
hg38 chr5:172,983,771-173,035,445 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Dyspepsia NA BeFree Detail
<0.001 myopathy Our cases highlight the importance of including non-coding regions of VMA21 in g... BeFree 25683699 Detail
<0.001 myopathy X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopa... BeFree 25809233 Detail
<0.001 Glycogen Storage Disease Type IIb These features have been most clearly described in patients with Danon's disease... BeFree 25557463 Detail
<0.001 Vacuolar myopathy NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
Our cases highlight the importance of including non-coding regions of VMA21 in genetic testing panel... DisGeNET Detail
X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopathy due to recently ... DisGeNET Detail
These features have been most clearly described in patients with Danon's disease due to LAMP2 defici... 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
-
Genome
hg19
Position
chr5:172,410,774-172,462,448
Variant Type
snv
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