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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 3 c.697_699del r.(?) p.(Glu233del) - pathogenic g.133167457_133167459del g.133448613_133448615del 697_699delAAG - BFSP2_000001 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.697_699del r.(?) p.(Glu233del) - likely pathogenic g.133167457_133167459del g.133448613_133448615del - - BFSP2_000001 no genotypes reported PubMed: Sergouniotis 2016 - rs121908938 Germline - 1/181 individuals - 0 - LOVD
+?/. - c.697_699del r.(?) p.(Glu233del) ACMG likely pathogenic g.133167457_133167459del g.133448613_133448615del BFSP2 c.697_699del p.(Glu233del) het - BFSP2_000001 heterozygous PubMed: Lenassi 2020 - - Germline ? - - 0 - LOVD
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