Full data view for gene MEFV

In collaboration with the Infevers autoinflammatory disorders (AID) databases.
Information The variants shown are described using the NM_000243.2 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 10 c.2080A>G r.(?) p.(Met694Val) Unknown - VUS g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia - - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Unknown - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Unknown - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Unknown - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Both (homozygous) - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Unknown - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #2 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+?/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #2 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
?/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #2 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #2 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #2 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M yes Tunisia North African - 0 - - 1 Wided Kelmemi
+/. - c.2080A>G r.(?) p.(Met694Val) Both (homozygous) ACMG pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - FMF - Trujillano et al., submitted unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ - - FMF - - - F no Morocco North Africa - 0 - - 1 Fatima Zahra Laarabi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - 0 - DNA SEQ - - FMF - - - M no Morocco - - 0 - - 1 Fatima Zahra Laarabi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - - - DNA SEQ - - FMF - - - F no Morocco - - - - - 1 Fatima Zahra Laarabi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - - - DNA SEQ - - FMF - - - F no Morocco - - - - - 1 Fatima Zahra Laarabi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - - - DNA SEQ - - FMF - - - M no Morocco - - - - - 1 Fatima Zahra Laarabi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - - - DNA SEQ - - FMF - - - F - Morocco - - - - - 1 Fatima Zahra Laarabi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Unknown - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - - - DNA SEQ - - FMF - - - F no Morocco - - - - - 1 Fatima Zahra Laarabi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - - - DNA SEQ - - FMF - - - F no Morocco - - - - - 1 Fatima Zahra Laarabi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - - - DNA SEQ - - FMF - - - M no Morocco - - - - - 1 Fatima Zahra Laarabi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - - - DNA SEQ - - FMF - - - F no Morocco - - - - - 1 Fatima Zahra Laarabi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - - - DNA SEQ - - FMF - - - M no Morocco - - - - - 1 Fatima Zahra Laarabi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - - - DNA SEQ - - FMF - - - M no Morocco - - - - - 1 Fatima Zahra Laarabi
+/. 10 c.2080A>G r.(?) p.(Met694Val) Parent #1 - pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Germline - - - - - DNA SEQ - - FMF - - - F no Morocco - - - - - 1 Fatima Zahra Laarabi
+/. - c.2080A>G r.(?) p.(Met694Val) Unknown - pathogenic g.3293407T>C g.3243407T>C MEFV(NM_000243.2):c.2080A>G (p.M694V) - MEFV_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2080A>G r.(?) p.(Met694Val) Unknown - pathogenic g.3293407T>C g.3243407T>C MEFV(NM_000243.2):c.2080A>G (p.M694V) - MEFV_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2080A>G r.(?) p.(Met694Val) Unknown - pathogenic g.3293407T>C g.3243407T>C MEFV(NM_000243.2):c.2080A>G (p.M694V) - MEFV_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2080A>G r.(?) p.(Met694Val) Parent #1 - likely pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs61752717 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.2080A>G r.(?) p.(Met694Val) Unknown ACMG pathogenic g.3293407T>C g.3243407T>C - - MEFV_000008 ACMG grading: PM2,PM5; Chin et al. 2015. Hum 24: 5542; Sidiropoulos et al. 2012. Brain 135: 1395 - - rs61752717 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - Germany - - 0 - - 1 Andreas Laner
Legend