Full data view for gene ADAMTSL4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_019032.4 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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     
-/- 14 c.2484G>A r.(?) p.(=) Both (homozygous) - benign g.150531050G>A g.150558574G>A - - ADAMTSL4_000005 - - - rs10749657 Unknown - MAF G=0.1180/256 - 0 - DNA SEQ - - Ectopia lentis, isolated autosomal recessive - - Two sisters and two nephews diagnosed with Ectopia lentis, the family is consanguine M yes Turkey - - 0 - - 1 Andreas Laner
-/- 14 c.2484G>A r.(?) p.(=) Both (homozygous) - benign g.150531050G>A g.150558574G>A - - ADAMTSL4_000005 - - - rs10749657 Unknown - MAF G=0.1180/256 - 0 - DNA SEQ - - Ectopia lentis, isolated autosomal recessive - - 1 family, 2 affected children (brother also affected) F ? Turkey - - 0 - - 1 Andreas Laner
-/- 14 c.2484G>A r.(?) p.(=) Unknown - benign g.150531050G>A g.150558574G>A - - ADAMTSL4_000005 - - - rs10749657 Unknown - MAF G=0.1180/256 - 0 - DNA SEQ - - Ectopia lentis, isolated autosomal recessive - - - M ? Germany - - 0 - - 1 Andreas Laner
-/- 14 c.2484G>A r.(?) p.(=) Both (homozygous) - benign g.150531050G>A g.150558574G>A - - ADAMTSL4_000005 - - - rs10749657 Unknown - MAF G=0.1180/256 - 0 - DNA SEQ - - Ectopia lentis, isolated autosomal recessive - - Consanguine parents - yes Turkey - - 0 - - 1 Andreas Laner
-/- 14 c.2484G>A r.(?) p.(=) Unknown - benign g.150531050G>A g.150558574G>A - - ADAMTSL4_000005 - - - rs10749657 Unknown - MAF G=0.1180/256 - 0 - DNA SEQ - - Ectopia lentis, isolated autosomal recessive - - - F ? Germany - - 0 - - 1 Andreas Laner
-/. - c.2484G>A r.(=) p.(=) Parent #1 - benign g.150531050G>A g.150558574G>A - - ADAMTSL4_000005 - - - rs10749657 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.2484G>A r.(?) p.(Pro828=) Unknown - benign g.150531050G>A g.150558574G>A ADAMTSL4(NM_019032.5):c.2484G>A (p.P828=, p.=) - ADAMTSL4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2484G>A r.(?) p.(Pro828=) Unknown - benign g.150531050G>A g.150558574G>A ADAMTSL4(NM_019032.5):c.2484G>A (p.P828=, p.=) - ADAMTSL4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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