Full data view for gene EEFSEC

Information The variants shown are described using the NM_021937.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.-93013dup r.(?) p.(=) Unknown - likely benign g.127779338dup - SEC61A1(NM_013336.4):c.463-13dupT - RUVBL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-92995T>C r.(?) p.(=) Unknown - likely benign g.127779356T>C - SEC61A1(NM_013336.3):c.468T>C (p.F156=), SEC61A1(NM_013336.4):c.468T>C (p.F156=) - RUVBL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-92995T>C r.(?) p.(=) Unknown - likely benign g.127779356T>C - SEC61A1(NM_013336.3):c.468T>C (p.F156=), SEC61A1(NM_013336.4):c.468T>C (p.F156=) - RUVBL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-88631G>A r.(?) p.(=) Unknown - VUS g.127783720G>A g.128064877G>A - - SEC61A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-86548C>A r.(?) p.(=) Unknown - likely benign g.127785803C>A - SEC61A1(NM_013336.4):c.784C>A (p.R262=) - RUVBL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-86547G>A r.(?) p.(=) Unknown - VUS g.127785804G>A - SEC61A1(NM_013336.4):c.785G>A (p.R262Q) - RUVBL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-86487A>G r.(?) p.(=) Unknown - VUS g.127785864A>G g.128067021A>G - - RUVBL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-86372G>C r.(?) p.(=) Unknown - likely benign g.127785979G>C - SEC61A1(NM_013336.4):c.960G>C (p.L320=) - RUVBL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-86061T>G r.(?) p.(=) Unknown - likely benign g.127786290T>G - SEC61A1(NM_013336.4):c.1002T>G (p.R334=) - RUVBL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-85531C>G r.(?) p.(=) Unknown - likely benign g.127786820C>G - SEC61A1(NM_013336.4):c.1168-6C>G - RUVBL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-85518A>G r.(?) p.(=) Unknown - VUS g.127786833A>G - SEC61A1(NM_013336.3):c.1175A>G (p.(Lys392Arg)) - RUVBL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-85446G>A r.(?) p.(=) Unknown - likely benign g.127786905G>A - SEC61A1(NM_013336.4):c.1244+3G>A - RUVBL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-85441G>A r.(?) p.(=) Unknown - likely benign g.127786910G>A g.128068067G>A SEC61A1(NM_013336.3):c.1244+8G>A (p.(=)) - RUVBL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-83942C>T r.(?) p.(=) Unknown - likely benign g.127788409C>T - SEC61A1(NM_013336.4):c.1335C>T (p.T445=) - RUVBL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-83894C>T r.(?) p.(=) Unknown - likely benign g.127788457C>T - SEC61A1(NM_013336.4):c.1383C>T (p.F461=) - RUVBL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-40607del r.(?) p.(=) Unknown - VUS g.127831744del g.128112901del - - RUVBL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.127872351A>G g.128153508A>G - - EEFSEC_000001 - PubMed: Laugwitz 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1PatII4 PubMed: Laugwitz 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Brazil - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.127872351A>G g.128153508A>G - - EEFSEC_000001 - PubMed: Laugwitz 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2PatII7 PubMed: Laugwitz 2025 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Brazil - - - - - 2 Johan den Dunnen
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.127872351A>G g.128153508A>G - - EEFSEC_000001 - PubMed: Laugwitz 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2PatII8 PubMed: Laugwitz 2025 sister F yes Brazil - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.(Met1?) Paternal (confirmed) - pathogenic (recessive) g.127872351A>G g.128153508A>G - - EEFSEC_000001 - PubMed: Laugwitz 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3PatII1 PubMed: Laugwitz 2025 2-generation family, 1 affected/3 deceased fetuses, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. - c.580C>A r.(?) p.(Pro194Thr) Both (homozygous) - pathogenic (recessive) g.127981026C>A g.128262183C>A - - EEFSEC_000002 - PubMed: Laugwitz 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatII1 PubMed: Laugwitz 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Georgia jew - - - - 1 Johan den Dunnen
?/. - c.789G>A r.(?) p.(=) Unknown - VUS g.128060078G>A - EEFSEC(NM_021937.5):c.789G>A (p.(Val263=)) - EEFSEC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.854G>A r.(?) p.(Arg285Gln) Maternal (confirmed) - pathogenic (recessive) g.128060143G>A g.128341300G>A - - EEFSEC_000003 - PubMed: Laugwitz 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3PatII1 PubMed: Laugwitz 2025 2-generation family, 1 affected/3 deceased fetuses, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. - c.1169A>C r.(?) p.(Asp390Ala) Both (homozygous) - pathogenic (recessive) g.128060458A>C g.128341615A>C - - EEFSEC_000004 - PubMed: Laugwitz 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5PatII1 PubMed: Laugwitz 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.1169A>C r.(?) p.(Asp390Ala) Both (homozygous) - pathogenic (recessive) g.128060458A>C g.128341615A>C - - EEFSEC_000004 - PubMed: Laugwitz 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam6PatII1 PubMed: Laugwitz 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.1278C>A r.(?) p.(Cys426Ter) Both (homozygous) - pathogenic (recessive) g.128060567C>A g.128341724C>A - - EEFSEC_000005 - PubMed: Laugwitz 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam7PatII1 PubMed: Laugwitz 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1751_1752dup r.(?) p.(Val585MetfsTer104) Both (homozygous) - pathogenic (recessive) g.128127062_128127063dup g.128408219_128408220dup - - EEFSEC_000006 - PubMed: Laugwitz 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8PatII3 PubMed: Laugwitz 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Afghanistan - - - - - 1 Johan den Dunnen
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