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.

12 entries on 1 page. Showing entries 1 - 12.
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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.2084A>G r.(?) p.(Lys695Arg) Unknown - VUS g.3293403T>C g.3243403T>C - - MEFV_000009 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 10 c.2084A>G r.(?) p.(Lys695Arg) Unknown - VUS g.3293403T>C g.3243403T>C - - MEFV_000009 - - - - Unknown - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 10 c.2084A>G r.(?) p.(Lys695Arg) Unknown - VUS g.3293403T>C g.3243403T>C - - MEFV_000009 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 10 c.2084A>G r.(?) p.(Lys695Arg) Parent #2 - pathogenic g.3293403T>C g.3243403T>C - - MEFV_000009 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2084A>G r.(?) p.(Lys695Arg) Parent #1 - pathogenic g.3293403T>C g.3243403T>C - - MEFV_000009 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - F no Tunisia North African - 0 - - 1 Wided Kelmemi
+/. 10 c.2084A>G r.(?) p.(Lys695Arg) Parent #1 - pathogenic g.3293403T>C g.3243403T>C - - MEFV_000009 - - - - Germline - - - 0 - DNA SEQ White Blood Cells - FMF - - - M no Tunisia North African - 0 - - 1 Wided Kelmemi
+?/. - c.2084A>G r.(?) p.(Lys695Arg) Unknown - likely pathogenic g.3293403T>C g.3243403T>C MEFV(NM_000243.2):c.2084A>G (p.K695R) - MEFV_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2084A>G r.(?) p.(Lys695Arg) Unknown - pathogenic g.3293403T>C g.3243403T>C MEFV(NM_000243.2):c.2084A>G (p.K695R) - MEFV_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2084A>G r.(?) p.(Lys695Arg) Unknown - likely pathogenic g.3293403T>C g.3243403T>C MEFV(NM_000243.2):c.2084A>G (p.K695R) - MEFV_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2084A>G r.(?) p.(Lys695Arg) Unknown - likely pathogenic g.3293403T>C g.3243403T>C MEFV(NM_000243.2):c.2084A>G (p.K695R) - MEFV_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2084A>G r.(?) p.(Lys695Arg) Unknown ACMG VUS g.3293403T>C - - - MEFV_000009 ACMG grading: BS1,BS2 Papa et al. 2017. Orphanet 12: 167; Bernot et al. 1998. Hum 7: 1317; Bell et al. 2011. Sci Transl Med 3: 65; Mordechai et al. 2016. GeneReviews 0: 0 - rs104895094 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
?/. - c.2084A>G r.(?) p.(Lys695Arg) Unknown - VUS g.3293403T>C g.3243403T>C - - MEFV_000009 - PubMed: Cordova-Fletes 2020 - rs104895094 Unknown - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat3 PubMed: Cordova-Fletes 2020 - F - Mexico - - 0 - - 1 Johan den Dunnen
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