Full data view for gene ERLIN1

Information The variants shown are described using the NM_006459.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
-?/. - c.-5351A>G r.(?) p.(=) Unknown - likely benign g.101950734T>C - CHUK(NM_001278.5):c.2109-9A>G - CHUK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5297C>T r.(?) p.(=) Unknown - VUS g.101950680G>A - CHUK(NM_001320928.1):c.2137C>T (p.P713S) - CHUK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.149G>T r.(149g>u) p.(Gly50Val) Both (homozygous) - pathogenic g.101943559C>A g.100183802C>A - - ERLIN1_000002 - PubMed: Novarino 2014, Journal: Novarino 2014 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ-NG-R, PCR, RT-PCR, Western blood - neuropathy (CCT5) - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 2 affecteds, 2 unaffected siblings, 2 unaffected heterozygous carrier parents (consanguineous), 1098-IV-3 M - - - - - added by student Merel van Kan - 2 Johan den Dunnen
+/. 2 c.149G>T r.(147g>u) p.(Gly50Val) Both (homozygous) - pathogenic g.101943559C>A g.100183802C>A - - ERLIN1_000002 - PubMed: Novarino 2014, Journal: Novarino 2014 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ-NG-R, PCR, RT-PCR, Western blood - neuropathy (CCT5) - PubMed: Novarino 2014, Journal: Novarino 2014 brother of 1098-IV-3 M - - - - - added by student Merel van Kan - 1 Johan den Dunnen
?/. 4 c.281T>C r.(?) p.(Val94Ala) Both (homozygous) - VUS g.101937913A>G g.100178156A>G - - ERLIN1_000004 - - - - Germline yes - - - - DNA SEQ-NG Blood - ALS ALS-518 - 6 generation family, 10 affected (DNA available from 1F, 3M), unaffected heterozygous carrier parents F yes Turkey white - - - - 4 Ceren Tunca
?/. 4 c.281T>C r.(?) p.(Val94Ala) Both (homozygous) - VUS g.101937913A>G g.100178156A>G - - ERLIN1_000004 - - - - Germline yes - - - - DNA SEQ-NG - - ALS ALS-856 - - M yes Turkey - - - - - 1 Ceren Tunca
?/. 4 c.281T>C r.(?) p.(Val94Ala) Both (homozygous) - VUS g.101937913A>G g.100178156A>G - - ERLIN1_000004 - - - - Germline yes - - - - DNA SEQ-NG - - ALS ALS-869 - - M yes Turkey - - - - - 1 Ceren Tunca
?/. 4 c.281T>C r.(?) p.(Val94Ala) Both (homozygous) - VUS g.101937913A>G g.100178156A>G - - ERLIN1_000004 - - - - Germline yes - - - - DNA PCR - - ALS ALS-1077 - - M yes Turkey - - - - - 1 Ceren Tunca
-?/. - c.656-20_656-18del r.(=) p.(=) Unknown - likely benign g.101916013_101916015del - ERLIN1(NM_006459.4):c.656-20_656-18delCTT - ERLIN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.762C>A r.(?) p.(Ala254=) Unknown - likely benign g.101914680G>T - ERLIN1(NM_006459.3):c.762C>A (p.A254=) - ERLIN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.763C>T r.(?) p.(Arg255*) Both (homozygous) - pathogenic g.101914679G>A g.100154922G>A - - ERLIN1_000003 - PubMed: Novarino 2014, Journal: Novarino 2014 - - Germline yes - - - - DNA SEQ-NG - - SPG - PubMed: Novarino 2014, Journal: Novarino 2014 5-generation family, 3 affected (2F, M), 3 unaffected siblings, unaffected heterozygous carrier parents, patient 786-V-3 M yes - - - - added by student Jente Houweling - 3 Johan den Dunnen
+/. 10 c.763C>T r.(?) p.(Arg255*) Both (homozygous) - pathogenic g.101914679G>A g.100154922G>A - - ERLIN1_000003 - PubMed: Novarino 2014, Journal: Novarino 2014 - - Germline yes - - - - DNA SEQ-NG - - SPG - PubMed: Novarino 2014, Journal: Novarino 2014 sister of 786-V-3 F yes - - - - added by student Jente Houweling - 1 Johan den Dunnen
?/. - c.763C>T r.(?) p.(Arg255Ter) Unknown - VUS g.101914679G>A g.100154922G>A ERLIN1(NM_006459.3):c.763C>T (p.(Arg255Ter)) - ERLIN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.862_867del r.(?) p.(Tyr288_Gln289del) Both (homozygous) - pathogenic g.101912070_101912075del g.100152313_100152318del 862_868delACCAGG (incorrect) - ERLIN1_000001 - PubMed: Novarino 2014, Journal: Novarino 2014 - - Germline yes - - - - RNA arraySNP, SEQ neural tissue - IAHSP - PubMed: Novarino 2014, Journal: Novarino 2014 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents, Pat1598V2 F - - - - - added by student Seline Keijzer - 2 Johan den Dunnen
+/. 11 c.862_867del r.(?) p.(Tyr288_Gln289del) Both (homozygous) - pathogenic g.101912070_101912075del g.100152313_100152318del - - ERLIN1_000001 - PubMed: Novarino 2014, Journal: Novarino 2014 - - Germline yes - - - - RNA arraySNP, SEQ neural tissue - IAHSP - PubMed: Novarino 2014, Journal: Novarino 2014 sister of 1598PatV4 F - - - - - added by student Seline Keijzer - 1 Johan den Dunnen
-?/. - c.1016A>G r.(?) p.(Asn339Ser) Unknown - likely benign g.101911919T>C - ERLIN1(NM_006459.3):c.1016A>G (p.N339S) - ERLIN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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