Full data view for gene MAP2K7

Information The variants shown are described using the NM_145185.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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     
?/. - c.-4882G>A r.(?) p.(=) Unknown - VUS g.7963948G>A g.7899063G>A LRRC8E(NM_001268284.1):c.541G>A (p.(Glu181Lys)) - LRRC8E_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3038_-3036del r.(?) p.(=) Unknown - likely benign g.7965792_7965794del g.7900907_7900909del LRRC8E(NM_001268284.1):c.2379_2381del (p.(Glu795del)) - MAP2K7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.490C>T r.(?) p.(Leu164Phe) Unknown - VUS g.7975380C>T - MAP2K7(NM_145185.2):c.490C>T (p.(Leu164Phe)) - MAP2K7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*144A>C r.(=) p.(=) Unknown - likely benign g.7977460A>C - MAP2K7:c.*144A>C - MAP2K7_000004 - PubMed: Maranhao 2015 - - Germline - 5/25 families - - - DNA SEQ-NG - WES retinal disease - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - 5 LOVD
-?/. - c.*157G>C r.(=) p.(=) Unknown - likely benign g.7977473G>C - MAP2K7:c.*157G>C - MAP2K7_000005 - PubMed: Maranhao 2015 - - Germline - 9/25 families - - - DNA SEQ-NG - WES retinal disease - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - 9 LOVD
?/. - c.*4265G>A r.(=) p.(=) Unknown - VUS g.7981581G>A g.7916696G>A TGFBR3L(NM_001195259.1):c.351G>A (p.P117=) - MAP2K7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4496_*4504del r.(=) p.(=) Unknown - VUS g.7981812_7981820del g.7916927_7916935del TGFBR3L(NM_001195259.1):c.569_577del (p.(Pro194_Pro196del)) - TGFBR3L_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5162C>G r.(=) p.(=) Unknown - VUS g.7982478C>G g.7917593C>G TGFBR3L(NM_001195259.1):c.718C>G (p.(Pro240Ala)) - TGFBR3L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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