All variants in the ABCB6 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.717G>A r.(?) p.(Trp239Ter) - pathogenic g.220081525C>T g.219216803C>T ABCB6(NM_005689.4):c.717G>A (p.W239*) - ABCB6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.717G>A r.(?) p.(Trp239*) - pathogenic g.220081525C>T g.219216803C>T - - ABCB6_000028 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 1/2794 individuals - 0 - Mohammed Faruq
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