Full data view for gene SREBF1

Information The variants shown are described using the NM_004176.4 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.1579C>T r.(?) p.(Arg527Cys) Parent #1 - pathogenic (dominant) g.17720597G>A g.17817283G>A - - SREBF1_000004 - PubMed: Wang 2020, Journal: Wang 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES IFAP Fam2PatII-7 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 2 affected (2F), unaffected non-carrier parents F - China - - - - - 2 Johan den Dunnen
+/. - c.1579C>T r.(?) p.(Arg527Cys) Maternal (confirmed) - pathogenic (dominant) g.17720597G>A g.17817283G>A - - SREBF1_000004 - PubMed: Wang 2020, Journal: Wang 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES IFAP Fam2PatIII-2 PubMed: Wang 2020, Journal: Wang 2020 daughter F - China - - - - - 1 Johan den Dunnen
+/. - c.1579C>T r.(?) p.(Arg527Cys) Unknown - pathogenic (dominant) g.17720597G>A g.17817283G>A - - SREBF1_000004 - PubMed: Wang 2020, Journal: Wang 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES IFAP Individual 3 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.1579C>T r.(?) p.(Arg527Cys) Unknown - pathogenic (dominant) g.17720597G>A g.17817283G>A - - SREBF1_000004 - PubMed: Wang 2020, Journal: Wang 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES IFAP Individual 4 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.1579C>T r.(?) p.(Arg527Cys) Unknown - pathogenic (dominant) g.17720597G>A g.17817283G>A - - SREBF1_000004 - PubMed: Wang 2020, Journal: Wang 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES IFAP Individual 5 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.1579C>T r.(?) p.(Arg527Cys) Unknown - pathogenic (dominant) g.17720597G>A g.17817283G>A - - SREBF1_000004 - PubMed: Wang 2020, Journal: Wang 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES IFAP Individual 6 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected parents M - Germany - - - - - 1 Johan den Dunnen
+/. - c.1579C>T r.(?) p.(Arg527Cys) Unknown - pathogenic (dominant) g.17720597G>A g.17817283G>A - - SREBF1_000004 - PubMed: Wang 2020, Journal: Wang 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES IFAP Individual 7 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected parents M - Congo - - - - - 1 Johan den Dunnen
+/. - c.1579C>T r.(?) p.(Arg527Cys) Unknown - pathogenic (dominant) g.17720597G>A g.17817283G>A - - SREBF1_000004 - PubMed: Wang 2020, Journal: Wang 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES IFAP Individual 8 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected parents M - Italy - - - - - 1 Johan den Dunnen
+/. - c.1579C>T r.(?) p.(Arg527Cys) Unknown - pathogenic (dominant) g.17720597G>A g.17817283G>A - - SREBF1_000004 - PubMed: Wang 2020, Journal: Wang 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES IFAP Individual 9 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected parents M - United States African American - - - - 1 Johan den Dunnen
+/. - c.1579C>T r.(?) p.(Arg527Cys) Unknown - pathogenic (dominant) g.17720597G>A g.17817283G>A - - SREBF1_000004 - PubMed: Wang 2020, Journal: Wang 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES IFAP Individual 11 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents F - India - - - - - 1 Johan den Dunnen
+/. - c.1579C>T r.(?) p.(Arg527Cys) Unknown - pathogenic (dominant) g.17720597G>A g.17817283G>A NM_001005291.3:c.1669C>T (Arg557Cys) - SREBF1_000004 - PubMed: Irurzun 2021 - - De novo - - - - - DNA SEQ-NG - WES ? Fam2Pat PubMed: Irurzun 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1669C>T r.(?) p.(Arg527Cys) Unknown ACMG pathogenic (dominant) g.17720597G>A g.17817283G>A NM_004176.4:c.1669C>T (Arg557Cys) - SREBF1_000004 ACMG PS2_mod, PS4, PM2_sup, PP1_strong, PP4 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat74 PubMed: Wang 2024 patient, no family history F - China - - - - - 1 Johan den Dunnen
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