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.

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.1500G>A r.(?) p.(Ala500=) - benign g.17475217C>T g.17494572C>T BFSP1(NM_001195.5):c.1500G>A (p.A500=) - BFSP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1500G>A r.(?) p.(Ala500=) - likely benign g.17475217C>T g.17494572C>T - - BFSP1_000004 - PubMed: Li 2019 - rs6136118 Germline - - - - - Johan den Dunnen
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