Full data view for gene AIPL1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_014336.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
Legend   How to query  

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     
+/. 6 c.905G>T r.(?) p.(Arg302Leu) Paternal (confirmed) - pathogenic g.6329030C>A g.6425710C>A Arg302Lys - AIPL1_000036 homozygous missense variant PubMed: Zernant 2005 - rs62637015 Germline - - - - - DNA arraySNP, DHPLC, SEQ, SSCA - - LCA - - 4 generation family 3 affected,8 carrier F yes India - - - - - 1 Raheel Qamar
+/. 6 c.905G>T r.(?) p.(Arg302Leu) Maternal (confirmed) - pathogenic g.6329030C>A g.6425710C>A Arg302Lys - AIPL1_000036 homozygous missense variant PubMed: Zernant 2005 - rs62637015 Germline - - - - - DNA arraySNP, DHPLC, SEQ, SSCA - - LCA - - 4 generation family 3 affected,8 carrier F yes India - - - - - 1 Raheel Qamar
+/. 6 c.905G>T r.(?) p.(Arg302Leu) Paternal (confirmed) - pathogenic g.6329030C>A g.6425710C>A Arg302Lys - AIPL1_000036 homozygous missense variant PubMed: Zernant 2005 - rs62637015 Germline - - - - - DNA arraySNP, DHPLC, SEQ, SSCA - - LCA - - 4 generation family 3 affected,8 carrier F yes India - - - - - 1 Raheel Qamar
+/. 6 c.905G>T r.(?) p.(Arg302Leu) Maternal (confirmed) - pathogenic g.6329030C>A g.6425710C>A Arg302Lys - AIPL1_000036 homozygous missense variant PubMed: Zernant 2005 - rs62637015 Germline - - - - - DNA arraySNP, DHPLC, SEQ, SSCA - - LCA - - 4 generation family 3 affected,8 carrier F yes India - - - - - 1 Raheel Qamar
+/. 6 c.905G>T r.(?) p.(Arg302Leu) Paternal (confirmed) - pathogenic g.6329030C>A g.6425710C>A Arg302Lys - AIPL1_000036 homozygous missense variant PubMed: Zernant 2005 - rs62637015 Germline - - - - - DNA arraySNP, DHPLC, SEQ, SSCA - - LCA - - 4 generation family 3 affected,8 carrier F yes India - - - - - 1 Raheel Qamar
+/. 6 c.905G>T r.(?) p.(Arg302Leu) Maternal (confirmed) - pathogenic g.6329030C>A g.6425710C>A Arg302Lys - AIPL1_000036 homozygous missense variant PubMed: Zernant 2005 - rs62637015 Germline - - - - - DNA arraySNP, DHPLC, SEQ, SSCA - - LCA - - 4 generation family 3 affected,8 carrier F yes India - - - - - 1 Raheel Qamar
?/. 6 c.905G>T r.(?) p.(Arg302Leu) Parent #1 - VUS g.6329030C>A g.6425710C>A 905G>T (GCG>CTC) - AIPL1_000036 homozygous PubMed: Sohocki 2000 - rs62637015 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 4 generation family, 3 affected F yes India - - - - - 1 Raheel Qamar
?/. 6 c.905G>T r.(?) p.(Arg302Leu) Parent #2 - VUS g.6329030C>A g.6425710C>A 905G>T (GCG>CTC) - AIPL1_000036 homozygous PubMed: Sohocki 2000 - rs62637015 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 4 generation family, 3 affected F yes India - - - - - 1 Raheel Qamar
?/. 6 c.905G>T r.(?) p.(Arg302Leu) Parent #1 - VUS g.6329030C>A g.6425710C>A 905G>T (GCG>CTC) - AIPL1_000036 homozygous PubMed: Sohocki 2000 - rs62637015 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 4 generation family, 3 affected F yes India - - - - - 1 Raheel Qamar
?/. 6 c.905G>T r.(?) p.(Arg302Leu) Parent #2 - VUS g.6329030C>A g.6425710C>A 905G>T (GCG>CTC) - AIPL1_000036 homozygous PubMed: Sohocki 2000 - rs62637015 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 4 generation family, 3 affected F yes India - - - - - 1 Raheel Qamar
?/. 6 c.905G>T r.(?) p.(Arg302Leu) Parent #1 - VUS g.6329030C>A g.6425710C>A 905G>T (GCG>CTC) - AIPL1_000036 homozygous PubMed: Sohocki 2000 - rs62637015 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 4 generation family, 3 affected F yes India - - - - - 1 Raheel Qamar
?/. 6 c.905G>T r.(?) p.(Arg302Leu) Parent #2 - VUS g.6329030C>A g.6425710C>A 905G>T (GCG>CTC) - AIPL1_000036 homozygous PubMed: Sohocki 2000 - rs62637015 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 4 generation family, 3 affected F yes India - - - - - 1 Raheel Qamar
-?/. 6 c.905G>T r.(?) p.(Arg302Leu) Parent #1 - likely benign g.6329030C>A g.6425710C>A - - AIPL1_000036 homozygous SNP PubMed: Tan 2012 - rs62637015 Unknown - - - - - DNA arraySNP, SEQ, PCR - - ? - - - ? ? - - - - - - 1 Raheel Qamar
-?/. 6 c.905G>T r.(?) p.(Arg302Leu) Parent #2 - likely benign g.6329030C>A g.6425710C>A - - AIPL1_000036 homozygous SNP PubMed: Tan 2012 - rs62637015 Unknown - - - - - DNA arraySNP, SEQ, PCR - - ? - - - ? ? - - - - - - 1 Raheel Qamar
?/. 6 c.905G>T r.(?) p.(Arg302Leu) Parent #1 - VUS g.6329030C>A g.6425710C>A R302L - AIPL1_000036 - PubMed: Zernant 2005 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Zernant 2005 - F yes India Indian - - - - 1 Frans Cremers
-?/. - c.905G>T r.(?) p.(Arg302Leu) Unknown - likely benign g.6329030C>A g.6425710C>A AIPL1(NM_014336.4):c.905G>T (p.R302L), AIPL1(NM_014336.5):c.905G>T (p.R302L) - AIPL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.905G>T r.(?) p.(Arg302Leu) Unknown - likely benign g.6329030C>A g.6425710C>A AIPL1(NM_014336.4):c.905G>T (p.R302L), AIPL1(NM_014336.5):c.905G>T (p.R302L) - AIPL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.905G>T r.(?) p.(Arg302Leu) Maternal (confirmed) - benign g.6329030C>A g.6425710C>A NM_001033054:c.G716T (R239L) - AIPL1_000036 - PubMed: Weisz Hubshman 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - RPar FamPatII1;Fam1 PubMed: Weisz Hubshman 2018, Vulto-van Silfhout 2024, submitted 2-generation family, 1 affected, unaffected heterozygous carrier parents/brother F - Morocco Yemenite;Jew - - - - 1 Johan den Dunnen
-?/. - c.905G>T r.(?) p.(Arg302Leu) Unknown - likely benign g.6329030C>A g.6425710C>A AIPL1(NM_014336.4):c.905G>T (p.R302L), AIPL1(NM_014336.5):c.905G>T (p.R302L) - AIPL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.905G>T r.(?) p.(Arg302Leu) Parent #1 - likely benign g.6329030C>A g.6425710C>A - - AIPL1_000036 48 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62637015 Germline - 48/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 48 Mohammed Faruq
-?/. - c.905G>T r.(?) p.(Arg302Leu) Both (homozygous) - likely benign g.6329030C>A g.6425710C>A - - AIPL1_000036 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62637015 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.905G>T r.(?) p.(Arg302Leu) Parent #1 - VUS g.6329030C>A g.6425710C>A - - AIPL1_000036 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 48 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
?/. 6 c.905G>T r.(?) p.(Arg302Leu) Unknown - VUS g.6329030C>A - p.Arg302Leu - AIPL1_000036 previously suggested to be disease-causing, but more likely to be benign. In this study two patients were homozygous and 4 heterozygous with no second mutationidentified. It was detected in the homozygous state in an unaffected parent of Indian descent whose affected children have LCA caused by a homozygous mutation in the gene RPGRIP1 PubMed: Tan 2012 - rs62637015 Germline - 0.033 in 153 patients; 0 in 96 controls - - - DNA PE, SEQ, PCR blood bi-directional sequencing retinal disease - PubMed: Tan 2012 - - - - Indian - - - - 6 LOVD
?/. - c.905G>T r.(?) p.(Arg302Leu) Unknown - VUS g.6329030C>A g.6425710C>A AIPL1 c.905G>T, p.R302L - AIPL1_000036 single allele in a recessive disease; heterozygous PubMed: Wiszniewski 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease Ar-177-04 PubMed: Wiszniewski 2011 family Ar-177 ? - United States - - - - - 1 LOVD
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.