Full data view for gene BEST1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_004183.3 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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - pathogenic g.61719294A>C g.61951822A>C BEST1(NM_004183.3):c.16A>C (p.T6P) - BEST1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - pathogenic g.61719294A>C - BEST1(NM_004183.3):c.16A>C (p.T6P) - BEST1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C - c.16A>C - BEST1_000004 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx6-1 PubMed: Petrukhin 1998 family SL76, individual SL76-2 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx6-2 PubMed: Petrukhin 1998 family SL76, individual SL76-3 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx6-3 PubMed: Petrukhin 1998 family SL76, individual SL76-4 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-1 PubMed: Petrukhin 1998 family SL76, individual SL76-5 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-2 PubMed: Petrukhin 1998 family SL76, individual SL76-6 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-3 PubMed: Petrukhin 1998 family SL76, individual SL76-7 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-4 PubMed: Petrukhin 1998 family SG1, individual SG1-1 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-5 PubMed: Petrukhin 1998 family SG1, individual SG1-2 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-6 PubMed: Petrukhin 1998 family SG1, individual SG1-3 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-7 PubMed: Petrukhin 1998 family SG1, individual SG1-4 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A120C, T6P - BEST1_000004 heterozygous PubMed: Petrukhin 1998 - - Germline yes 0/50 - - - DNA STR, SEQ - - retinal disease Nx8-8 PubMed: Petrukhin 1998 family SG1, individual SG1-4 ? - - Dutch - - - - 1 LOVD
+?/. 2 c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 A16C, T6P - BEST1_000004 heterozygous PubMed: Kramer 2000 - - Unknown ? - - - - DNA SSCA, SEQ blood - retinal disease A-21 PubMed: Kramer 2000 - ? - - - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C VMD2 c.16A>C, p.Thr6Pro - BEST1_000004 heterozygous PubMed: Boon 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease 3 PubMed: Boon 2007 - M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C VMD2 c.16A>C, p.Thr6Pro - BEST1_000004 heterozygous PubMed: Boon 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease 9 PubMed: Boon 2007 - M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease A-II.2 PubMed: Boon 2009 Family A, individual II.2 F - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease A-III.1 PubMed: Boon 2009 Family A, individual III.1 F - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease B-III.1 PubMed: Boon 2009 Family B, individual III.1 F - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease C-II.1 PubMed: Boon 2009 Family C, individual II.1 M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease C-III.1 PubMed: Boon 2009 Family C, individual III.1 M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease D-III.4 PubMed: Boon 2009 Family D, individual III.4 M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease D-IV.3 PubMed: Boon 2009 Family D, individual IV.3 M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease E-III.1 PubMed: Boon 2009 Family E, individual III.1 M - Netherlands - - - - - 1 LOVD
+?/. - c.16A>C r.(?) p.(Thr6Pro) Unknown - likely pathogenic g.61719294A>C g.61951822A>C BEST1 c.16A>C, p.(Thr6Pro) - BEST1_000004 heterozygous PubMed: Boon 2009 - - Germline yes - - - - DNA SEQ - - retinal disease F-III.5 PubMed: Boon 2009 Family F, individual III.5 M - Netherlands - - - - - 1 LOVD
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