chr11:22242663:CAAAG> 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	chr11:22,242,663-22,242,667
hg38	chr11:22,221,117-22,221,121

HGVS

ANO5

Type	Transcript	Protein
RefSeq	NM_001142649.1:c.201_205delCAAAG	NP_001136121.1:p.Ser67ArgfsTer10
	NM_213599.2:c.201_205delCAAAG	NP_998764.1:p.Ser67ArgfsTer10
Ensemble	ENST00000684663.1:c.156_160delCAAAG	ENST00000684663.1:p.Ser52ArgfsTer10
	ENST00000683411.1:c.-250_-246delCAAAG
	ENST00000683437.1:c.-250_-246delCAAAG
	ENST00000682341.1:c.159_163delCAAAG	ENST00000682341.1:p.Ser53ArgfsTer10
	ENST00000683197.1:c.159_163delCAAAG	ENST00000683197.1:p.Ser53ArgfsTer10
	ENST00000682266.1:c.-250_-246delCAAAG
	ENST00000324559.9:c.201_205delCAAAG	ENST00000324559.9:p.Ser67ArgfsTer10

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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: -
dbSNP: rs794727745 dbSNP
Genome: hg19
Position: chr11:22,242,663-22,242,667
Variant Type: snv
Reference Allele: CAAAG
Alternative Allele: -

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