Full data view for gene STARD7

Information The variants shown are described using the NM_020151.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam2 PubMed: Corbett 2019 family, 2 affected - - Italy - - - - - 2 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam3 PubMed: Corbett 2019 multi-generation family, 4 affected - - Italy - - - - - 4 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam5 PubMed: Corbett 2019 multi-generation family, 25 affected - - Italy - - - - - 25 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam6 PubMed: Corbett 2019 multi-generation family, 12 affected - - Italy - - - - - 12 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam7 PubMed: Corbett 2019 multi-generation family, 4 affected - - Italy - - - - - 4 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam8 PubMed: Corbett 2019 multi-generation family, 10 affected - - Italy - - - - - 10 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam9 PubMed: Corbett 2019 multi-generation family, 13 affected - - Italy - - - - - 13 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam10 PubMed: Corbett 2019 multi-generation family, 16 affected - - Italy - - - - - 16 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam11 PubMed: Corbett 2019 multi-generation family, 10 affected - - Italy - - - - - 10 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam12 PubMed: Corbett 2019 multi-generation family, 21 affected - - Italy - - - - - 21 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam13 PubMed: Corbett 2019 multi-generation family, 3 affected - - Italy - - - - - 3 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam14 PubMed: Corbett 2019 multi-generation family, 3 affected - - Italy - - - - - 3 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME FamB/Fam15 PubMed: De Fusco 2014, PubMed: Corbett 2019 4-generation family, 5 affected (3F, 2M) F;M no Italy - - - - - 4 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam16 PubMed: Corbett 2019 multi-generation family, 15 affected - - Iraq Jewish-Sephardic - - - - 15 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam17 PubMed: Corbett 2019 family, 2 affected - - Israel Jewish-Sephardic - - - - 2 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam18 PubMed: Corbett 2019 multi-generation family, 24 affected - - South Africa white, European - - - - 24 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam19 PubMed: Corbett 2019 multi-generation family, 13 affected - - France;Spain - - - - - 13 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam20 PubMed: Corbett 2019 multi-generation family, 7 affected - - France;Spain - - - - - 7 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam21 PubMed: Corbett 2019 2-generation family, 1 affected - - Syria - - - - - 1 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Maternal (confirmed) - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] ATTTT/ATTTC expansion - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam22 PubMed: Corbett 2019 5-generation family, 11 affected (3F, 8M) F;M - Italy - - - - - 11 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)] g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)] - - STARD7_000001 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME FamA/Fam4 PubMed: De Fusco 2014, PubMed: Corbett 2019 5-generation family, 11 affected (6F, 5M) F;M - Italy - - - - - 11 Johan den Dunnen
+/. 1i c.291-1572_291-1518ATTTT[(387_390)]ATTTC[(274_345)] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[(387_390)]GAAAT[(274_345)] g.96197067_96197121AAAAT[(387_390)]GAAAT[(274_345)] ATTTT/ATTTC expansion - STARD7_000003 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp, SEQ-ON, SEQ-PB - - FAME Fam1PatIV98 PubMed: Corbett 2019 multi-generation family, 55 affected, PatIV98 M - Australia;New Zealand white, European - - - - 55 Johan den Dunnen
?/. - c.259G>T - r.(?) p.(Glu87*) Unknown - VUS g.96873914C>A - STARD7(NM_020151.4):c.259G>T (p.(Glu87*)) - STARD7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.291-1572_291-1518ATTTT[340]ATTTC[588] ATTTT[exp]ATTTC[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.96862805_96862859AAAAT[340]GAAAT[588] g.96197067_96197121AAAAT[340]GAAAT[588] ATTTT/ATTTC expansion - STARD7_000002 - PubMed: Corbett 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam5PatIII37 PubMed: Corbett 2019 PatIII37 F - Italy - - - - - 1 Johan den Dunnen
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