All variants in the ABCB6 gene

Information The variants shown are described using the NM_005689.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.574C>T r.(?) p.(Arg192Trp) - VUS g.220082505G>A g.219217783G>A ABCB6(NM_005689.2):c.574C>T (p.R192W) - ABCB6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.574C>T r.(?) p.(Arg192Trp) - VUS g.220082505G>A g.219217783G>A ABCB6(NM_005689.2):c.574C>T (p.R192W) - ABCB6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.574C>T r.(?) p.(Arg192Trp) - pathogenic g.220082505G>A g.219217783G>A - - ABCB6_000018 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 4/2795 individuals - 0 - Mohammed Faruq
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