Unique variants in the ABCC5 gene

Information The variants shown are described using the NM_005688.2 transcript reference sequence.

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

Reported     

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     
?/. 1 - c.1328T>C r.(?) p.(Met443Thr) - VUS g.183695381A>G g.183977593A>G ABCC5(NM_005688.3):c.1328T>C (p.M443T) - ABCC5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2051A>G r.(?) p.(Asn684Ser) - VUS g.183681357T>C g.183963569T>C ABCC5(NM_005688.2):c.2051A>G (p.(Asn684Ser)) - ABCC5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2740T>C r.(?) p.(Tyr914His) - VUS g.183669719A>G g.183951931A>G ABCC5(NM_005688.2):c.2740T>C (p.(Tyr914His)) - ABCC5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2742T>A r.(?) p.(Tyr914Ter) - VUS g.183669717A>T g.183951929A>T ABCC5(NM_005688.2):c.2742T>A (p.(Tyr914Ter)) - ABCC5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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