All variants in the BFSP2 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_003571.2 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.403C>T r.(?) p.(Gln135Ter) - likely pathogenic g.133119330C>T - BFSP2(NM_003571.3):c.403C>T (p.Q135*) - BFSP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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