Full data view for gene BFSP2

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.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.74C>T r.(?) p.(Ala25Val) Unknown - likely benign g.133119001C>T g.133400157C>T BFSP2(NM_003571.3):c.74C>T (p.A25V) - BFSP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.113G>A r.(?) p.(Ser38Asn) Unknown - likely pathogenic g.133119040G>A g.133400196G>A BFSP2(NM_003571.2):c.113G>A(p.S38N) - BFSP2_000013 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 154 - 0 - DNA SEQ-NG-I blood - ? WHP54 PubMed: Sun 2018 - F - China - - 0 - - 1 LOVD
?/. - c.155G>A r.(?) p.(Arg52Gln) Unknown - VUS g.133119082G>A - BFSP2(NM_003571.3):c.155G>A (p.R52Q) - BFSP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224G>A r.(?) p.(Arg75His) Unknown - VUS g.133119151G>A g.133400307G>A BFSP2(NM_003571.2):c.224G>A (p.(Arg75His)) - BFSP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246T>C r.(?) p.(Ser82=) Unknown - likely benign g.133119173T>C g.133400329T>C BFSP2(NM_003571.3):c.246T>C (p.S82=) - BFSP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.379C>G r.(?) p.(Gln127Glu) Unknown - benign g.133119306C>G g.133400462C>G BFSP2(NM_003571.3):c.379C>G (p.Q127E) - BFSP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.403C>T r.(?) p.(Gln135Ter) Unknown - likely pathogenic g.133119330C>T - BFSP2(NM_003571.3):c.403C>T (p.Q135*) - BFSP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.489+1del r.spl? p.? Unknown - pathogenic g.133119417del - BFSP2(NM_003571.3):c.489delG (p.V164Wfs*55) - BFSP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.517C>T r.(?) p.(Arg173Trp) Unknown - VUS g.133166188C>T - BFSP2(NM_003571.3):c.517C>T (p.R173W) - BFSP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.603= r.(=) p.(Ala201=) Unknown - benign g.133167363G>A g.133448519G>A BFSP2(NM_003571.3):c.603G>A (p.A201=) - BFSP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.697_699del r.(?) p.(Glu233del) Parent #1 - pathogenic g.133167457_133167459del g.133448613_133448615del 697_699delAAG - BFSP2_000001 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected father, paternal cousin M no - - - 0 - - 3 Johan den Dunnen
+?/. - c.697_699del r.(?) p.(Glu233del) Parent #1 - likely pathogenic g.133167457_133167459del g.133448613_133448615del - - BFSP2_000001 no genotypes reported PubMed: Sergouniotis 2016 - rs121908938 Germline - 1/181 individuals - 0 - DNA SEQ-NG - gene panel CTRCT - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - 0 - - 1 LOVD
+?/. - c.697_699del r.(?) p.(Glu233del) Unknown ACMG likely pathogenic g.133167457_133167459del g.133448613_133448615del BFSP2 c.697_699del p.(Glu233del) het - BFSP2_000001 heterozygous PubMed: Lenassi 2020 - - Germline ? - - 0 - DNA SEQ-NG blood 144 genes panel tested retinal disease 18009736 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - 0 - - 1 LOVD
?/. - c.1115C>T r.(?) p.(Ala372Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1115C>T r.(?) p.(Ala372Val) Unknown - VUS g.133191280C>T - BFSP2(NM_003571.3):c.1115C>T (p.A372V) - BFSP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1181G>A r.(?) p.(Arg394His) Unknown - likely benign g.133191346G>A g.133472502G>A BFSP2(NM_003571.3):c.1181G>A (p.R394H) - BFSP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1199A>T r.(?) p.(Lys400Met) Unknown - VUS g.133191364A>T - BFSP2(NM_003571.3):c.1199A>T (p.K400M) - BFSP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1199A>T r.(?) p.(Lys400Met) Unknown - VUS g.133191364A>T - BFSP2(NM_003571.3):c.1199A>T (p.K400M) - BFSP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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