chr16:3293411:TAT> Detail (hg19) (MEFV, LOC126862264)

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

Genome

Assembly	Position
hg19	chr16:3,293,411-3,293,413
hg38	chr16:3,243,411-3,243,413

HGVS

MEFV

Type	Transcript	Protein
RefSeq	NM_001198536.1:c.280_278delATA
	NM_000243.2:c.2074_2076delATA	NP_000234.1:p.Ile692del
Ensemble	ENST00000339854.8:c.1534_1536delATA	ENST00000339854.8:p.Ile512del
	ENST00000541159.5:c.280_278delATA
	ENST00000536379.5:c.1441_1443delATA	ENST00000536379.5:p.Ile481del
	ENST00000219596.6:c.2074_2076delATA	ENST00000219596.6:p.Ile692del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

MEFV

Type	Database	ID	Link
Gene	MIM	608107	OMIM
	HGNC	6998	HGNC
	Ensembl	ENSG00000103313	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
Conflicting interpretations of pathogenicity	2023-03-20	criteria provided, conflicting interpretations	familial Mediterranean fever	germline not provided unknown	Detail
Pathogenic Likely pathogenic	2023-08-29	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-03-01	criteria provided, single submitter	Autoinflammatory syndrome	germline	Detail
Pathogenic	2023-08-14	criteria provided, single submitter	Familial Mediterranean fever, autosomal dominant	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.753	familial Mediterranean fever	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) AND Familial Mediterranean fever	ClinVar	Detail
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) AND not provided	ClinVar	Detail
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) AND Autoinflammatory syndrome	ClinVar	Detail
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) AND Familial Mediterranean fever, autosomal dominant	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: rs104895093 dbSNP
Genome: hg19
Position: chr16:3,293,411-3,293,413
Variant Type: snv
Reference Allele: TAT
Alternative Allele: -

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