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.

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.1115C>T r.(?) p.(Ala372Val) - VUS g.133191280C>T g.133472436C>T BFSP2(NM_003571.3):c.1115C>T (p.A372V) - BFSP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1115C>T r.(?) p.(Ala372Val) - VUS g.133191280C>T - BFSP2(NM_003571.3):c.1115C>T (p.A372V) - BFSP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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