chr11:22274644:CA> Detail (hg38) (ANO5)

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

Genome

Assembly	Position
hg19	chr11:22,296,190-22,296,191
hg38	chr11:22,274,644-22,274,645

HGVS

ANO5

Type	Transcript	Protein
RefSeq	NM_001142649.1:c.2311_2312delCA	NP_001136121.1:p.Gln771AlafsTer8
	NM_213599.2:c.2311_2312delCA	NP_998764.1:p.Gln771AlafsTer8
Ensemble	ENST00000324559.9:c.2311_2312delCA	ENST00000324559.9:p.Gln771AlafsTer8
	ENST00000682266.1:c.1861_1862delCA	ENST00000682266.1:p.Gln621AlafsTer8
	ENST00000682341.1:c.2269_2270delCA	ENST00000682341.1:p.Gln757AlafsTer8
	ENST00000683197.1:c.2269_2270delCA	ENST00000683197.1:p.Gln757AlafsTer8
	ENST00000683411.1:c.1861_1862delCA	ENST00000683411.1:p.Gln621AlafsTer8
	ENST00000683437.1:c.1861_1862delCA	ENST00000683437.1:p.Gln621AlafsTer8
	ENST00000684663.1:c.2266_2267delCA	ENST00000684663.1:p.Gln756AlafsTer8

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
Review star	[No Data.]
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

[No Data.]

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
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: hg38
Position: chr11:22,274,644-22,274,645
Variant Type: snv
Reference Allele: CA
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8652
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): 121290
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.122351389232418E-5

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