chr11:22225349:G>A Detail (hg19) (ANO5)

Information

Genome

Assembly Position
hg19 chr11:22,225,349-22,225,349
hg38 chr11:22,203,803-22,203,803 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001142649.1:c.41-1G>A
NM_213599.2:c.41-1G>A
Ensemble ENST00000683197.1:c.41-1G>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 Likely 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 Likely pathogenic 2023-09-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2013-11-08 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy type 2L germline Detail
Pathogenic 2024-01-22 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy type 2L,gnathodiaphyseal dysplasia germline Detail
Pathogenic 2024-01-22 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy type 2L,gnathodiaphyseal dysplasia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Miyoshi muscular dystrophy 3 NA CLINVAR Detail
0.480 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_213599.3(ANO5):c.41-1G>A AND not provided ClinVar Detail
NM_213599.3(ANO5):c.41-1G>A AND Autosomal recessive limb-girdle muscular dystrophy type 2L ClinVar Detail
NM_213599.3(ANO5):c.41-1G>A AND multiple conditions ClinVar Detail
NM_213599.3(ANO5):c.41-1G>A AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs398124625 dbSNP
Genome
hg19
Position
chr11:22,225,349-22,225,349
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8094
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)
99942
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.0005803365952252E-5
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