Full data view for gene REEP1

Information The variants shown are described using the NM_022912.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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     
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Parent #1 - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 not in 730 control chromosomes; genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - rs387906263 Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 4-generation family, 15 affected (10F, 5M) and 1 (F) with unclear clinical status F - United States - - - - - 16 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Unknown - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds F - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Unknown - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline/De novo (untested) yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds F - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Maternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds F - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Maternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds F - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Maternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds F - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Maternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds F - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Maternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds F - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Maternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds M - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Maternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds M - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Maternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds M - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Maternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds F - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Maternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds M - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Maternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds M - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Paternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds F - - - - - - - 1 Christian Beetz
+/. 6 c.512del r.(?) p.(Pro171Hisfs*52) Paternal (confirmed) - pathogenic g.86459836del g.86232713del 507delC - REEP1_000002 genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1 PubMed: Züchner 2006, OMIM:var0001 - - Germline yes - - - - DNA SEQ leukocytes - SPG31 - PubMed: Züchner 2006 3-generation family, 16 affecteds F - - - - - - - 1 Christian Beetz
+/. - c.512del r.(?) p.(Pro171Hisfs*52) Unknown - pathogenic g.86459836del g.86232713del c.431delC - REEP1_000002 - PubMed: Thomas 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - SPG Pat33 PubMed: Thomas 2022 affected siblings - no France - - - - - 2 Johan den Dunnen
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