chr11:22279305:G>A Detail (hg19) (ANO5)

Information

Genome

Assembly Position
hg19 chr11:22,279,305-22,279,305
hg38 chr11:22,257,759-22,257,759 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001142649.1:c.1407+5G>A
NM_213599.2:c.1407+5G>A
Ensemble ENST00000683411.1:c.957+5G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 608662 OMIM
HGNC 27337 HGNC
Ensembl ENSG00000171714 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 2012-03-20 no assertion criteria provided autosomal recessive limb-girdle muscular dystrophy type 2L germline unknown Detail
Pathogenic 2012-03-20 no assertion criteria provided Miyoshi muscular dystrophy 3 germline Detail
Pathogenic 2018-10-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_213599.3(ANO5):c.1407+5G>A AND Autosomal recessive limb-girdle muscular dystrophy type 2L ClinVar Detail
NM_213599.3(ANO5):c.1407+5G>A AND Miyoshi muscular dystrophy 3 ClinVar Detail
NM_213599.3(ANO5):c.1407+5G>A AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs281865464 dbSNP
Genome
hg19
Position
chr11:22,279,305-22,279,305
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8402
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
118350
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6899028305872412E-5
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