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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 7i_9i c.(723+1_724-1)_(*3+1_*4-1)del r.(del) p.? Unknown - pathogenic g.(70240581_70241892)_(70247822_70248265)del 9.(70944754_70946065)_(70951995_70952438)del del ex7-8 - SMN1_000050 - PubMed: Bell 2011 - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 7i_9i c.(723+1_724-1)_(*3+1_*4-1)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(70240581_70241892)_(70247822_70248265)del 9.(70944754_70946065)_(70951995_70952438)del del ex7-8 - SMN1_000050 - PubMed: Xia 2021 - - Germline - - - 0 - DNA MLPA, SEQ, SEQ-NG - - ? FamPatII2 PubMed: Xia 2021 - M no China - - 0 - - 1 Johan den Dunnen
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