Full data view for gene SMN1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000344.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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     
+/. _1_9_ c.-163_*577{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - - - - - DNA SEQ - - SMA Fam2 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - - - - - DNA SEQ - - SMA Fam3 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - - - - - DNA SEQ - - SMA Fam4 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - - - - - DNA SEQ - - SMA Fam5 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 3/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 3 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 4/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 4 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 143/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 143 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 2/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 2 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 30/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 30 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 22/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 22 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 4/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 4 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 2/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 2 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 8/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 8 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 15/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 15 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 10/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 10 Johan den Dunnen
+/. _1_9 c.-163_*577{0} r.0 p.0 Both (homozygous) ACMG pathogenic g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del NM_000344.3: SMN1 0 copies - SMN1_000087 ACMG PVS1, PP4_mod PubMed: Cerino 2022 - - Germline - - - - - DNA MLPA, SEQ, SEQ-NG - gene panel MYOP P70/Myo135 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. _1_9 c.-163_*577{0} r.0 p.0 Both (homozygous) ACMG pathogenic g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del NM_000344.3:SMN1 0 copies NM_017411.3:SMN2 3 copies - SMN1_000087 ACMG PVS1, PP4_mod PubMed: Cerino 2022 - - Germline - - - - - DNA MLPA, SEQ, SEQ-NG - gene panel MYOP P71/Myo138 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 7/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 7 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 19/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 19 Johan den Dunnen
+/. _1_9_ c.-163_*577{0} r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_70220768)_(70248839_?)del g.(?_70924941)_(70953012_?)del del SMN1 - SMN1_000087 - PubMed: Sharifi 2021 - - Germline - 5/432 families SMA - - - DNA MLPA, SEQ - - SMA - PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - 5 Johan den Dunnen
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