Unique variants in gene SMARCAD1

Information The variants shown are described using the NM_001128430.1 transcript reference sequence.

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

Effect     

Reported     

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     
-/. 1 - c.740G>A benign r.(?) p.(Ser247Asn) g.95170839G>A - SMARCAD1(NM_001128429.2):c.740G>A (p.S247N) - SMARCAD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.902T>C benign r.(?) p.(Val301Ala) g.95173779T>C - SMARCAD1(NM_001128429.2):c.902T>C (p.V301A) - SMARCAD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1479A>G benign r.(?) p.(=) g.95186055A>G - SMARCAD1(NM_001128429.2):c.1479A>G (p.Q493=) - SMARCAD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1839C>T benign r.(?) p.(=) g.95197520C>T - SMARCAD1(NM_001128429.2):c.1839C>T (p.D613=) - SMARCAD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend