chr11:22259631:T> Detail (hg38) (ANO5)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr11:22,281,177-22,281,177
hg38	chr11:22,259,631-22,259,631

HGVS

ANO5

Type	Transcript	Protein
RefSeq	NM_001142649.1:c.1520delT	NP_001136121.1:p.Phe507SerfsTer6
	NM_213599.2:c.1520delT	NP_998764.1:p.Phe507SerfsTer6
Ensemble	ENST00000324559.9:c.1520delT	ENST00000324559.9:p.Phe507SerfsTer6
	ENST00000682266.1:c.1070delT	ENST00000682266.1:p.Phe357SerfsTer6
	ENST00000682341.1:c.1478delT	ENST00000682341.1:p.Phe493SerfsTer6
	ENST00000683197.1:c.1478delT	ENST00000683197.1:p.Phe493SerfsTer6
	ENST00000683411.1:c.1070delT	ENST00000683411.1:p.Phe357SerfsTer6
	ENST00000683437.1:c.1070delT	ENST00000683437.1:p.Phe357SerfsTer6
	ENST00000684663.1:c.1475delT	ENST00000684663.1:p.Phe492SerfsTer6

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	2021-09-07	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-09-27	criteria provided, single submitter	autosomal recessive limb-girdle muscular dystrophy type 2L,gnathodiaphyseal dysplasia	germline	Detail
Pathogenic	2023-09-27	criteria provided, single submitter	autosomal recessive limb-girdle muscular dystrophy type 2L,gnathodiaphyseal dysplasia	germline	Detail
Pathogenic	2023-02-23	criteria provided, multiple submitters, no conflicts	autosomal recessive limb-girdle muscular dystrophy type 2L	germline unknown	Detail
Pathogenic	2023-11-10	criteria provided, single submitter	autosomal recessive limb-girdle muscular dystrophy	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.1520del (p.Phe507fs) AND not provided	ClinVar	Detail
NM_213599.3(ANO5):c.1520del (p.Phe507fs) AND multiple conditions	ClinVar	Detail
NM_213599.3(ANO5):c.1520del (p.Phe507fs) AND multiple conditions	ClinVar	Detail
NM_213599.3(ANO5):c.1520del (p.Phe507fs) AND Autosomal recessive limb-girdle muscular dystrophy type...	ClinVar	Detail
NM_213599.3(ANO5):c.1520del (p.Phe507fs) AND Autosomal recessive limb-girdle muscular dystrophy	ClinVar	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: rs794727158 dbSNP
Genome: hg38
Position: chr11:22,259,631-22,259,631
Variant Type: snv
Reference Allele: T
Alternative Allele: -

Genome browser