chr16:3247166:G>T Detail (hg38) (MEFV)

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

Information

Genome

Assembly	Position
hg19	chr16:3,297,166-3,297,166 View the variant detail on this assembly version.
hg38	chr16:3,247,166-3,247,166

HGVS

MEFV

Type	Transcript	Protein
RefSeq	NM_000243.2:c.1437C>A	NP_000234.1:p.Phe479Leu
	NM_001198536.1:c.804C>A	NP_001185465.1:p.Phe268Leu
Ensemble	ENST00000219596.6:c.1437C>A	ENST00000219596.6:p.Phe479Leu
	ENST00000339854.8:c.897C>A	ENST00000339854.8:p.Phe299Leu
	ENST00000536379.5:c.804C>A	ENST00000536379.5:p.Phe268Leu
	ENST00000541159.5:c.804C>A	ENST00000541159.5:p.Phe268Leu

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	Uncertain significance
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	COSM282758	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-07-03	criteria provided, single submitter	familial Mediterranean fever	germline	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.1437C>A (p.Phe479Leu) AND Familial Mediterranean fever	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: -
Genome: hg38
Position: chr16:3,247,166-3,247,166
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
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): 121412
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.470925443942938E-5

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