chr11:22257823:G>A Detail (hg19) (ANO5)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr11:22,257,823-22,257,823
hg38	chr11:22,236,277-22,236,277 View the variant detail on this assembly version.

HGVS

ANO5

Type	Transcript	Protein
RefSeq	NM_001142649.1:c.762+1G>A
	NM_213599.2:c.762+1G>A
Ensemble	ENST00000324559.9:c.762+1G>A
	ENST00000683197.1:c.720+1G>A
	ENST00000682266.1:c.312+1G>A
	ENST00000683437.1:c.312+1G>A
	ENST00000682341.1:c.720+1G>A
	ENST00000683411.1:c.312+1G>A
	ENST00000684663.1:c.717+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
Review star
Show details

Links

ANO5

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	2014-06-13	criteria provided, single submitter	autosomal recessive limb-girdle muscular dystrophy type 2L	germline	Detail
Pathogenic	2022-01-13	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-09-30	criteria provided, single submitter	autosomal recessive limb-girdle muscular dystrophy type 2L,gnathodiaphyseal dysplasia	germline	Detail
Pathogenic	2022-09-30	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	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_213599.3(ANO5):c.762+1G>A AND Autosomal recessive limb-girdle muscular dystrophy type 2L	ClinVar	Detail
NM_213599.3(ANO5):c.762+1G>A AND not provided	ClinVar	Detail
NM_213599.3(ANO5):c.762+1G>A AND multiple conditions	ClinVar	Detail
NM_213599.3(ANO5):c.762+1G>A AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs372221490 dbSNP
Genome: hg19
Position: chr11:22,257,823-22,257,823
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
East Asian Chromosome Counts (ExAC): 8470
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
Chromosome Counts in All Race (ExAC): 120128
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): 8.324453915823122E-6

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