All variants in the ABCC3 gene

Information The variants shown are described using the NM_001144070.1 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
-?/. - c.295C>T r.(?) p.(Arg99Trp) - likely benign g.48734135C>T g.50656774C>T ABCC3(NM_003786.4):c.295C>T (p.R99W) - ABCC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.791A>G r.(?) p.(Glu264Gly) - likely benign g.48736714A>G g.50659353A>G ABCC3(NM_001144070.1):c.791A>G (p.(Glu264Gly)), ABCC3(NM_003786.4):c.791A>G (p.E264G) - ABCC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.791A>G r.(?) p.(Glu264Gly) - likely benign g.48736714A>G - ABCC3(NM_001144070.1):c.791A>G (p.(Glu264Gly)), ABCC3(NM_003786.4):c.791A>G (p.E264G) - ABCC3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.804A>T r.(?) p.(Ala268=) - likely benign g.48736727A>T - ABCC3(NM_003786.4):c.804A>T (p.A268=) - ABCC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*5631C>T r.(=) p.(=) - VUS g.48750833C>T - ABCC3(NM_003786.4):c.2413C>T (p.R805*) - ABCC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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