chr2:71681090:C>T Detail (hg38) (DYSF)

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

Information

Genome

Assembly	Position
hg19	chr2:71,908,220-71,908,220 View the variant detail on this assembly version.
hg38	chr2:71,681,090-71,681,090

HGVS

DYSF

Type	Transcript	Protein
RefSeq	NM_001130976.1:c.6036C>T	NP_001124448.1:p.Asn2012=
	NM_003494.3:c.6036C>T	NP_003485.1:p.Asn2012=
	NM_001130455.1:c.6039C>T	NP_001123927.1:p.Asn2013=
	NM_001130986.1:c.6039C>T	NP_001124458.1:p.Asn2013=
	NM_001130983.1:c.6102C>T	NP_001124455.1:p.Asn2034=
	NM_001130981.1:c.6150C>T	NP_001124453.1:p.Asn2050=
	NM_001130982.1:c.6132C>T	NP_001124454.1:p.Asn2044=
	NM_001130984.1:c.6060C>T	NP_001124456.1:p.Asn2020=
	NM_001130980.1:c.6087C>T	NP_001124452.1:p.Asn2029=
	NM_001130987.1:c.6153C>T	NP_001124459.1:p.Asn2051=
	NM_001130985.1:c.6090C>T	NP_001124457.1:p.Asn2030=
	NM_001130979.1:c.6129C>T	NP_001124451.1:p.Asn2043=
	NM_001130977.1:c.6099C>T	NP_001124449.1:p.Asn2033=
	NM_001130978.1:c.6099C>T	NP_001124450.1:p.Asn2033=
Ensemble	ENST00000258104.8:c.6036C>T	ENST00000258104.8:p.Asn2012=
	ENST00000394120.6:c.6039C>T	ENST00000394120.6:p.Asn2013=
	ENST00000409366.5:c.6102C>T	ENST00000409366.5:p.Asn2034=
	ENST00000409582.7:c.6150C>T	ENST00000409582.7:p.Asn2050=
	ENST00000409651.5:c.6132C>T	ENST00000409651.5:p.Asn2044=
	ENST00000409744.5:c.6060C>T	ENST00000409744.5:p.Asn2020=
	ENST00000409762.5:c.6087C>T	ENST00000409762.5:p.Asn2029=
	ENST00000410020.8:c.6153C>T	ENST00000410020.8:p.Asn2051=
	ENST00000410041.1:c.6090C>T	ENST00000410041.1:p.Asn2030=
	ENST00000413539.6:c.6129C>T	ENST00000413539.6:p.Asn2043=
	ENST00000429174.6:c.6099C>T	ENST00000429174.6:p.Asn2033=
	ENST00000479049.6:c.2679C>T	ENST00000479049.6:p.Asn893=
	ENST00000698058.1:c.2784C>T	ENST00000698058.1:p.Asn928=
	ENST00000698059.1:c.2892C>T	ENST00000698059.1:p.Asn964=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely benign
Review star
Show details

Links

DYSF

Type	Database	ID	Link
Gene	MIM	603009	OMIM
	HGNC	3097	HGNC
	Ensembl	ENSG00000135636	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
Likely benign	2021-01-11	criteria provided, single submitter	DYSF-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001130987.2(DYSF):c.6153C>T (p.Asn2051=) AND DYSF-related disorder	ClinVar	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: chr2:71,681,090-71,681,090
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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