chr11:22294472:TCATAGC> Detail (hg19) (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	chr11:22,294,472-22,294,478
hg38	chr11:22,272,926-22,272,932

HGVS

ANO5

Type	Transcript	Protein
RefSeq	NM_001142649.1:c.2172_2178delTCATAGC	NP_001136121.1:p.His725Ter
	NM_213599.2:c.2172_2178delTCATAGC	NP_998764.1:p.His725Ter
Ensemble	ENST00000684663.1:c.2127_2133delTCATAGC	ENST00000684663.1:p.His710Ter
	ENST00000682266.1:c.1722_1728delTCATAGC	ENST00000682266.1:p.His575Ter
	ENST00000683197.1:c.2130_2136delTCATAGC	ENST00000683197.1:p.His711Ter
	ENST00000324559.9:c.2172_2178delTCATAGC	ENST00000324559.9:p.His725Ter
	ENST00000683411.1:c.1722_1728delTCATAGC	ENST00000683411.1:p.His575Ter
	ENST00000682341.1:c.2130_2136delTCATAGC	ENST00000682341.1:p.His711Ter
	ENST00000683437.1:c.1722_1728delTCATAGC	ENST00000683437.1:p.His575Ter

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	2015-06-03	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2021-06-05	criteria provided, single submitter	gnathodiaphyseal dysplasia,autosomal recessive limb-girdle muscular dystrophy type 2L	germline	Detail
Pathogenic	2021-06-05	criteria provided, single submitter	gnathodiaphyseal dysplasia,autosomal recessive limb-girdle muscular dystrophy type 2L	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

Descrption	Source	Links
NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer) AND not provided	ClinVar	Detail
NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer) AND multiple conditions	ClinVar	Detail
NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer) AND multiple conditions	ClinVar	Detail
NA	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: -
dbSNP: rs794727231 dbSNP
Genome: hg19
Position: chr11:22,294,472-22,294,478
Variant Type: snv
Reference Allele: TCATAGC
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): 121404
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): 8.236960890909689E-6

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