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.

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     
+/. 3 c.421C>T r.(?) p.(Gln141*) Both (homozygous) - pathogenic (recessive) g.6331682G>A - - - AIPL1_000191 - PubMed: Yücelyilmaz 2014 - - Germline - - - - - DNA SEQ - - LCA FamB PubMed: Yücelyilmaz 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Turkey Turkish - - - - 1 Didem Yücel Yılmaz
+?/. - c.421C>T r.(?) p.(Gln141*) Parent #1 - likely pathogenic g.6331682G>A g.6428362G>A - - AIPL1_000191 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP070 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+?/. - c.421C>T r.(?) p.(Gln141Ter) Both (homozygous) - likely pathogenic g.6331682G>A g.6428362G>A c.C241T p.Q81X - AIPL1_000191 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam1 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents/relatives - - China Han - - - - 1 LOVD
+?/. - c.421C>T r.(?) p.(Gln141Ter) Both (homozygous) - likely pathogenic g.6331682G>A g.6428362G>A c.C241T p.Q81X - AIPL1_000191 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam2 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - - - - 1 LOVD
+?/. - c.421C>T r.(?) p.(Gln141Ter) Parent #1 - likely pathogenic g.6331682G>A g.6428362G>A c.C241T p.Q81X - AIPL1_000191 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam3 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - - - - 1 LOVD
+?/. - c.421C>T r.(?) p.(Gln141Ter) Parent #1 - likely pathogenic g.6331682G>A g.6428362G>A c.C241T p.Q81X - AIPL1_000191 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam4 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - - - - 1 LOVD
+/. - c.421C>T r.(?) p.(Gln141Ter) Both (homozygous) - pathogenic g.6331682G>A g.6428362G>A - - AIPL1_000191 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 389 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. - c.421C>T r.(?) p.(Gln141Ter) Both (homozygous) - pathogenic g.6331682G>A g.6428362G>A - - AIPL1_000191 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 394 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. - c.421C>T r.(?) p.(Gln141Ter) Parent #1 - pathogenic g.6331682G>A g.6428362G>A - - AIPL1_000191 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 3267585 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
?/. - c.421C>T r.(?) p.(Gln141Ter) Parent #2 - VUS g.6331682G>A g.6428362G>A - - AIPL1_000191 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 1621712 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
?/. - c.421C>T r.(?) p.(Gln141Ter) Parent #1 - VUS g.6331682G>A g.6428362G>A - - AIPL1_000191 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 688 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+?/. - c.421C>T r.(?) p.(Gln141Ter) Both (homozygous) - likely pathogenic g.6331682G>A g.6428362G>A - - AIPL1_000191 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W105-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
+/. 3 c.421C>T r.(?) p.(Gln141*) Both (homozygous) ACMG pathogenic g.6331682G>A g.6428362G>A NM_014336.4:c.421C>T, NP_055151.3:p.(Gln141Ter), NC_000017.10:g.6331682G>A - AIPL1_000191 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016102425 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. - c.421C>T r.(?) p.(Gln141*) Both (homozygous) ACMG pathogenic g.6331682G>A g.6428362G>A AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X - AIPL1_000191 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 10161 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.421C>T r.(?) p.(Gln141*) Parent #1 ACMG pathogenic g.6331682G>A g.6428362G>A AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X - AIPL1_000191 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 10283 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.421C>T r.(?) p.(Gln141*) Both (homozygous) ACMG pathogenic g.6331682G>A g.6428362G>A AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X - AIPL1_000191 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19366 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.421C>T r.(?) p.(Gln141*) Both (homozygous) ACMG pathogenic g.6331682G>A g.6428362G>A AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X - AIPL1_000191 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19793 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.421C>T r.(?) p.(Gln141*) Both (homozygous) ACMG pathogenic g.6331682G>A g.6428362G>A AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X - AIPL1_000191 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 191017 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.421C>T r.(?) p.(Gln141*) Parent #2 ACMG pathogenic g.6331682G>A g.6428362G>A AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X - AIPL1_000191 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19277 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.421C>T r.(?) p.(Gln141*) Parent #2 ACMG pathogenic g.6331682G>A g.6428362G>A AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X - AIPL1_000191 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 67160 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.421C>T r.(?) p.(Gln141*) Parent #2 ACMG pathogenic g.6331682G>A g.6428362G>A AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X - AIPL1_000191 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 191096 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+?/. 4 c.421C>T r.(?) p.(Gln141*) Both (homozygous) - likely pathogenic (recessive) g.6331682G>A - c.421C>T - AIPL1_000191 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F yes - - - - - - 1 LOVD
+?/. 4 c.421C>T r.(?) p.(Gln141*) Unknown - likely pathogenic (recessive) g.6331682G>A - c.421C>T - AIPL1_000191 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 4 c.421C>T r.(?) p.(Gln141*) Unknown - likely pathogenic (recessive) g.6331682G>A - c.421C>T - AIPL1_000191 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 4 c.421C>T r.(?) p.(Gln141*) Both (homozygous) - pathogenic g.6331682G>A - c.C241T:p.Gln81* - AIPL1_000191 - PubMed: Wan 2019 - rs200125117 Germline - Whole exome sequencing (WES) - - - DNA SEQ-NG, SEQ blood - retinal disease - PubMed: Wan 2019 - M - China Chinese - - - - 1 LOVD
+/. 4 c.421C>T r.(?) p.(Gln141*) Both (homozygous) - pathogenic g.6331682G>A - c.C241T:p.Gln81* - AIPL1_000191 - PubMed: Wan 2019 - rs200125117 Germline - Whole exome sequencing (WES) - - - DNA SEQ-NG, SEQ blood - retinal disease - PubMed: Wan 2019 - M - China Chinese - - - - 1 LOVD
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