All transcript variants in gene SAMD9

Information The variants shown are described using the NM_017654.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/. - c.3005T>C VUS - - g.92732406A>G - SAMD9:NM_001193307.1:c.3005T>C, NM_017654.3:c.3005T>C - SAMD9_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.4493T>C VUS r.(?) p.(Ile1498Thr) g.92730918A>G - SAMD9:c.4493T>C (I1498T) - SAMD9_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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