All variants in the SMN1 gene

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.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 9 c.*211_*212del r.(?) p.(=) - likely benign g.70248473_70248474del g.70952646_70952647del *210_*211del - SMN1_000071 - - - rs200800214 Germline - - - - - Laura Alías
-?/. 9 c.*211_*212del r.(?) p.(=) - likely benign g.70248473_70248474del g.70952647_70952648del *210_*211del g.27706_27707delAT - SMN1_000071 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. - - rs200800214 Germline - - - - - Laura Alías
-?/. 10 c.*211_*212del r.(?) p.(=) - likely benign g.70248473_70248474del g.70952647_70952648del *210_*211del g.27706_27707delAT - SMN1_000071 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. - - rs200800214 Germline - - - - - Laura Alías
-?/. - c.*211_*212del r.(=) p.(=) - likely benign g.70248473_70248474del g.70952646_70952647del SMN1(NM_000344.4):c.*211_*212delAT - SMN1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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