Full data view for gene BFSP1

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.

26 entries on 1 page. Showing entries 1 - 26.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-388026_*8274718del r.0? p.0? Unknown - pathogenic g.9200001_17900000del g.9200001_17900000del JAG1 del20p12.1-p12.2, - JAG1_000783 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease AgS1 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
-?/. - c.374G>A r.(?) p.(Ser125Asn) Unknown - likely benign g.17511601C>T g.17530956C>T BFSP1(NM_001195.4):c.374G>A (p.S125N) - BFSP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.401G>C r.(?) p.(Cys259Ser) Unknown - likely benign g.17479645C>G g.17499000C>G NM_001195.3: c.776G>C (p.(Cys259Ser)) - BFSP1_000002 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I - - MCOP - - - - - Australia - - - - - 1 Ivan Prokudin
-?/. - c.686G>A r.(?) p.(Arg229Gln) Unknown - likely benign g.17489583C>T - BFSP1(NM_001195.4):c.686G>A (p.R229Q) - BFSP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.812T>C r.(?) p.(Ile271Thr) Unknown - VUS g.17479609A>G g.17498964A>G BFSP1(NM_001195.4):c.812T>C (p.I271T) - BFSP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.812T>C r.(?) p.(Ile271Thr) Parent #1 - VUS g.17479609A>G g.17498964A>G - - BFSP1_000007 no interpretation available; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147718368 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.879G>A r.(?) p.(Arg293=) Unknown - likely benign g.17479542C>T - BFSP1(NM_001195.4):c.879G>A (p.R293=) - BFSP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.887C>T r.(?) p.(Ala296Val) Unknown - likely benign g.17479534G>A g.17498889G>A BFSP1(NM_001195.4):c.887C>T (p.A296V) - BFSP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.956+7G>C r.(=) p.(=) Unknown - likely benign g.17479458C>G g.17498813C>G BFSP1(NM_001195.4):c.956+7G>C - BFSP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.957-3C>G r.spl? p.? Paternal (confirmed) - VUS g.17477671G>C g.17497026G>C BFSP1 c.957-3C>G, - - BFSP1_000019 heterozygous, present in affected father PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 23 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.957-3C>G r.spl? p.? Paternal (confirmed) - VUS g.17477671G>C g.17497026G>C BFSP1 c.957-3C>G, - - BFSP1_000019 heterozygous, present in affected father PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 23 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
-?/. - c.974T>C r.(?) p.(Ile325Thr) Unknown - likely benign g.17477651A>G - BFSP1(NM_001195.4):c.974T>C (p.I325T) - BFSP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1033G>A r.(?) p.(Gly345Ser) Unknown - benign g.17477592C>T g.17496947C>T BFSP1(NM_001195.5):c.1033G>A (p.G345S) - BFSP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1042+5C>T r.spl? p.? Unknown - likely benign g.17477578G>A g.17496933G>A BFSP1(NM_001195.4):c.1042+5C>T - BFSP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1139A>T r.(?) p.(Asp380Val) Unknown - VUS g.17475578T>A - BFSP1(NM_001195.4):c.1139A>T (p.D380V) - BFSP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1349A>G r.(?) p.(Glu450Gly) Unknown - likely benign g.17475368T>C g.17494723T>C BFSP1(NM_001195.4):c.1349A>G (p.E450G) - BFSP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1500G>A r.(?) p.(Ala500=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1620_1621del r.(?) p.(*666Lysext*7) Unknown - likely benign g.17474721_17474722del g.17494076_17494077del NM_001195.3:c. 1995_1996del (p.(*666Lysext*7)) - BFSP1_000001 - - - - Unknown - - - - - DNA SEQ, SEQ-NG-I - - MCOP - - - - - Australia - - - - - 1 Ivan Prokudin
?/. - c.1693C>T r.(?) p.(Arg565Trp) Unknown - VUS g.17475024G>A - BFSP1(NM_001195.5):c.1693C>T (p.R565W) - BFSP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1749A>G r.(?) p.(Pro583=) Unknown - benign g.17474968T>C g.17494323T>C BFSP1(NM_001195.5):c.1749A>G (p.P583=) - BFSP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1749A>T r.(?) p.(Pro583=) Unknown - likely benign g.17474968T>A g.17494323T>A BFSP1(NM_001195.4):c.1749A>T (p.P583=) - BFSP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1775C>T r.(?) p.(Ala592Val) Unknown - likely benign g.17474942G>A g.17494297G>A BFSP1(NM_001195.4):c.1775C>T (p.A592V) - BFSP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1876G>A r.(?) p.(Glu626Lys) Unknown - VUS g.17474841C>T g.17494196C>T BFSP1(NM_001195.4):c.1876G>A (p.E626K) - BFSP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1896C>T r.(?) p.(Ser632=) Unknown - likely benign g.17474821G>A - BFSP1(NM_001195.4):c.1896C>T (p.S632=) - BFSP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1939G>C r.(?) p.(Glu647Gln) Unknown - VUS g.17474778C>G - BFSP1(NM_001195.4):c.1939G>C (p.E647Q) - BFSP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1995_1996del r.(?) p.(Ter666LysextTer7) Unknown - VUS g.17474721_17474722del g.17494076_17494077del BFSP1(NM_001195.4):c.1995_1996delTT (p.*666Kfs*8) - BFSP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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