All variants in the BFSP1 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001195.3 transcript reference sequence.

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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.1876G>A r.(?) p.(Glu626Lys) - VUS g.17474841C>T g.17494196C>T BFSP1(NM_001195.4):c.1876G>A (p.E626K) - BFSP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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