Full data view for gene OCA2

Information The variants shown are described using the NM_000275.2 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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.1327G>A r.(?) p.(Val443Ile) Unknown - pathogenic g.28230247C>T g.27985101C>T OCA2(NM_000275.2):c.1327G>A (p.V443I, p.(Val443Ile)), OCA2(NM_000275.3):c.1327G>A (p.V443I) - OCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1327G>A r.(?) p.(Val443Ile) Unknown - pathogenic g.28230247C>T g.27985101C>T OCA2(NM_000275.2):c.1327G>A (p.V443I, p.(Val443Ile)), OCA2(NM_000275.3):c.1327G>A (p.V443I) - OCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1327G>A r.(?) p.(Val443Ile) Unknown - pathogenic g.28230247C>T g.27985101C>T OCA2(NM_000275.2):c.1327G>A (p.V443I, p.(Val443Ile)), OCA2(NM_000275.3):c.1327G>A (p.V443I) - OCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1327G>A r.(?) p.(Val443Ile) Unknown - pathogenic g.28230247C>T g.27985101C>T OCA2(NM_000275.2):c.1327G>A (p.V443I, p.(Val443Ile)), OCA2(NM_000275.3):c.1327G>A (p.V443I) - OCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1327G>A r.(?) p.(Val443Ile) Unknown ACMG likely pathogenic g.28230247C>T g.27985101C>T - - OCA2_000013 ACMG grading: PP1,PP5,PS3,PM3; reported in Lee 1994. NEJM 330: 529; Andersen 2016. Mol Genet Genomic Med 4: 420; Zhang 2013. Zhonghua Yi Xue Yi Chuan Xue Za Zh 30: 318; Bellono 2014. Elife 16: 4543; Hutton 2008. Invest Ophthalmol Vis Sci 49: 868 - - rs121918166 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+?/. - c.1327G>A r.(?) p.(Val443Ile) Unknown ACMG likely pathogenic g.28230247C>T g.27985101C>T - - OCA2_000013 ACMG: PM1,PM2,PM3,PP5; no second causative variant detected in OCA2; Lee et al. 1994. NEJM 330: 529; Andersen et al. 2016. Mol Genet Genomic Med 4: 420; Zhang et al. 2013. Zhonghua Yi Xue Yi Chuan Xue Za Zh 30: 318; Bellono et al. 2014. Elife 16: 4543; Hutton et al. 2008. Invest Ophthalmol Vis Sci 49: 868 - - rs121918166 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+?/. - c.1327G>A r.(?) p.(Val443Ile) Unknown ACMG likely pathogenic g.28230247C>T g.27985101C>T - - OCA2_000013 ACMG grading: PS1,PS3,PM2,PP3; Deng et al. 1993. Science 261: 1047; Fujisawa et al. 2012. Ann Neurol 72: 739; Marjanovi? et al. 2017. J Neurol 264: 1091 - - rs121918166 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - Germany - - - - - 1 Andreas Laner
+?/. - c.1327G>A r.(?) p.(Val443Ile) Parent #1 - likely pathogenic g.28230247C>T - - - OCA2_000013 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
+?/. - c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - likely pathogenic (recessive) g.28230247C>T - - - OCA2_000013 - - - - Germline yes - - - - DNA PCR, SEQ-NG - - OCA F4:II-1 - - M no - - - - - - 1 Mervyn Thomas
+/. - c.1327G>A r.(?) p.(Val443Ile) Unknown - pathogenic g.28230247C>T - OCA2(NM_000275.2):c.1327G>A (p.V443I, p.(Val443Ile)), OCA2(NM_000275.3):c.1327G>A (p.V443I) - OCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1327G>A r.(?) p.(Val443Ile) Both (homozygous) ACMG likely pathogenic g.28230247C>T g.27985101C>T OCA2 c.1327G>A p.(Val443Ile) hom - OCA2_000013 homozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 18 genes panel tested retinal disease 16021414 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1327G>A r.(?) p.(Val443Ile) Unknown ACMG likely pathogenic g.28230247C>T g.27985101C>T OCA2 c.1327G>A p.(Val443Ile) het OCA2 exons 19 to 21 duplication het - OCA2_000013 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 26 genes panel tested retinal disease 18012132 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 13 c.1327G>A r.(?) p.(Val443Ile) Unknown - likely pathogenic g.28230247C>T - c.1327G>A - OCA2_000013 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #1 ACMG pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P14 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #1 ACMG pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P15 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Both (homozygous) ACMG pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P25 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) ACMG pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P30 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) ACMG pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P33 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Maternal (confirmed) ACMG pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P34 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P48 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Maternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P54 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #1 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P64 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #1 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P90 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P100 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #1 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P102 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Both (homozygous) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P112 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Maternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P117 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P124 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P125 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #1 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P138 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P141 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Both (homozygous) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P148 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #1 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P149 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Maternal (inferred) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P154 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P156 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Both (homozygous) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P159 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Both (homozygous) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P166 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Maternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P168 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Maternal (inferred) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P173 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #1 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P187 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #1 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P189 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Both (homozygous) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P192 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Maternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P196 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #1 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P197 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Maternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P23 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Maternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P41 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Maternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P55 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P56 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #2 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P69 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Maternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P70 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P76 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P84 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #2 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism OCA2-P89 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #2 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P116 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Maternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P139 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #2 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P147 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P160 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Parent #2 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P161 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 13 c.1327G>A r.(?) p.(Val443Ile) Paternal (confirmed) - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism OCA2-P167 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.1327G>A r.(?) p.(Val443Ile) Parent #2 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam51PatI PubMed: Jackson 2020 - F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.1327G>A r.(?) p.(Val443Ile) Parent #2 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam25242 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.1327G>A r.(?) p.(Val443Ile) Parent #2 - pathogenic (recessive) g.28230247C>T g.27985101C>T - - OCA2_000013 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam25246 PubMed: Jackson 2020 - - - - white - - - - 1 Johan den Dunnen
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