Full data view for gene SAMD7

Information The variants shown are described using the NM_001304366.1 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/. 4i c.211+1G>A r.(87_211del) p.(Asp30Leufs*5) Both (homozygous) - pathogenic (recessive) g.169639127G>A g.169921339G>A - - SAMD7_000005 effect on splicing predicted from mini-gene splicing assay PubMed: Bauwens 2024, Journal: Bauwens 2024 - - Germline - - - - - DNA SEQ-NG - - RD Fam3GC22085 PubMed: Bauwens 2024, Journal: Bauwens 2024 2-generation family, 1 affected, unaffected parents F yes Pakistan - - - - - 1 Tamar Ben-Yosef
+/. 4i c.211+1G>A r.(87_211del) p.(Asp30Leufs*5) Both (homozygous) - pathogenic (recessive) g.169639127G>A g.169921339G>A - - SAMD7_000005 effect on splicing predicted from mini-gene splicing assay PubMed: Bauwens 2024, Journal: Bauwens 2024 - - Germline - - - - - DNA SEQ-NG - - RD Fam4GC28331.1 PubMed: Bauwens 2024, Journal: Bauwens 2024 2-generation family, affected sister/brother, unaffected parents F yes Pakistan - - - - - 2 Tamar Ben-Yosef
+/. 4i c.211+1G>A r.(87_211del) p.(Asp30Leufs*5) Both (homozygous) - pathogenic (recessive) g.169639127G>A g.169921339G>A - - SAMD7_000005 effect on splicing predicted from mini-gene splicing assay PubMed: Bauwens 2024, Journal: Bauwens 2024 - - Germline - - - - - DNA SEQ-NG - - RD Fam4GC28331.2 PubMed: Bauwens 2024, Journal: Bauwens 2024 brother M yes Pakistan - - - - - 1 Tamar Ben-Yosef
+/. 5i c.290+1G>A r.(212_290del) p.(Trp72Glnfs*20) Both (homozygous) - pathogenic (recessive) g.169642925G>A g.169925137G>A - - SAMD7_000001 effect on splicing predicted from mini-gene splicing assay PubMed: Bauwens 2024, Journal: Bauwens 2024 - - Germline - - - - - DNA SEQ-NG - - RD Fam1R1124 PubMed: Bauwens 2024, Journal: Bauwens 2024 2-generation family, 1 affected, unaffected parents F ? Israel Yemenite;Jew - - - - 1 Tamar Ben-Yosef
+/. 6i c.919+1G>A r.[(919_920ins[a;919+2_920-1],291_919del)] p.[(Gly307Aspfs*27,Thr97Asnfs*13)] Both (homozygous) - pathogenic (recessive) g.169644970G>A g.169927182G>A - - SAMD7_000003 effect on splicing predicted from mini-gene splicing assay PubMed: Bauwens 2024, Journal: Bauwens 2024 - - Germline yes - - - - DNA SEQ-NG - - RD Fam2D1804026 PubMed: Bauwens 2024, Journal: Bauwens 2024 2-generation family, affected father/2 sons M yes Morocco - - - - - 3 Tamar Ben-Yosef
+/. 6i c.919+1G>A r.[(919_920ins[a;919+2_920-1],291_919del)] p.[(Gly307Aspfs*27,Thr97Asnfs*13)] Both (homozygous) - pathogenic (recessive) g.169644970G>A g.169927182G>A - - SAMD7_000003 effect on splicing predicted from mini-gene splicing assay PubMed: Bauwens 2024, Journal: Bauwens 2024 - - Germline yes - - - - DNA SEQ-NG - - RD Fam2D2309613 PubMed: Bauwens 2024, Journal: Bauwens 2024 father M yes Morocco - - - - - 1 Johan den Dunnen
+/. - c.992A>T r.(?) p.(Asp331Val) Both (homozygous) - pathogenic (recessive) g.169646317A>T g.169928529A>T - - SAMD7_000002 - PubMed: Bauwens 2024, Journal: Bauwens 2024 - - Germline - - - - - DNA SEQ-NG - - RD Fam6CHlaus0429 PubMed: Bauwens 2024, Journal: Bauwens 2024 2-generation family, 1 affected, unaffected parents F yes Pakistan - - - - - 1 Tamar Ben-Yosef
+/. 9 c.1153G>A r.[(1153g>a,1153_(*660_?)del)] p.[(Val385Ile),?)] Both (homozygous) - pathogenic (recessive) g.169656106G>A g.169938318G>A - - SAMD7_000004 effect on splicing predicted from mini-gene splicing assay PubMed: Bauwens 2024, Journal: Bauwens 2024 - - Germline - - - - - DNA SEQ-NG - - RD Fam5D2112274 PubMed: Bauwens 2024, Journal: Bauwens 2024 2-generation family, 1 affected, unaffected parents F ? - Africa - - - - 1 Tamar Ben-Yosef
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