Unique 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.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

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     
-?/. 1 - c.74C>T r.(?) p.(Ala25Val) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.113G>A r.(?) p.(Ser38Asn) - 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 - - - LOVD
?/. 1 - c.155G>A r.(?) p.(Arg52Gln) - VUS g.133119082G>A - BFSP2(NM_003571.3):c.155G>A (p.R52Q) - BFSP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.224G>A r.(?) p.(Arg75His) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.246T>C r.(?) p.(Ser82=) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.379C>G r.(?) p.(Gln127Glu) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - 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
+/. 1 - c.489+1del r.spl? p.? - pathogenic g.133119417del - BFSP2(NM_003571.3):c.489delG (p.V164Wfs*55) - BFSP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.517C>T r.(?) p.(Arg173Trp) - VUS g.133166188C>T - BFSP2(NM_003571.3):c.517C>T (p.R173W) - BFSP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.603= r.(=) p.(Ala201=) - 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 - - - - - VKGL-NL_Groningen
+/., +?/. 3 3 c.697_699del r.(?) p.(Glu233del) ACMG likely pathogenic, pathogenic g.133167457_133167459del g.133448613_133448615del 697_699delAAG, BFSP2 c.697_699del p.(Glu233del) het - BFSP2_000001 heterozygous, no genotypes reported PubMed: Gillespie 2014, Journal: Gillespie 2014, PubMed: Lenassi 2020, PubMed: Sergouniotis 2016 - rs121908938 Germline ? 1/181 individuals - - - Johan den Dunnen
?/. 2 - 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, VKGL-NL_Groningen
-?/. 1 - c.1181G>A r.(?) p.(Arg394His) - 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 - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1199A>T r.(?) p.(Lys400Met) - VUS g.133191364A>T - BFSP2(NM_003571.3):c.1199A>T (p.K400M) - BFSP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
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