Annotation Detail
Information
- Associated Genes
- PAX6
- Associated Variants
-
PAX6 p.Arg38Trp (p.R38W)
(
ENST00000419022.6,
ENST00000639916.1,
ENST00000481563.6,
ENST00000643871.1,
ENST00000606377.7,
ENST00000379132.8,
ENST00000639386.2,
ENST00000640684.1,
ENST00000379107.7,
ENST00000638629.1,
ENST00000241001.13,
ENST00000379109.7,
ENST00000638914.3,
ENST00000638755.1,
ENST00000638696.1,
ENST00000638685.1,
ENST00000639409.1,
ENST00000640368.2,
ENST00000640975.1,
ENST00000640610.1,
ENST00000639548.1,
ENST00000640125.1,
ENST00000638965.1,
ENST00000379129.7,
ENST00000638963.1,
ENST00000639034.2 )
PAX6 p.Arg38Trp (p.R38W) ( ENST00000241001.13, ENST00000379107.7, ENST00000379109.7, ENST00000379129.7, ENST00000379132.8, ENST00000419022.6, ENST00000481563.6, ENST00000606377.7, ENST00000638629.1, ENST00000638685.1, ENST00000638696.1, ENST00000638755.1, ENST00000638914.3, ENST00000638963.1, ENST00000638965.1, ENST00000639034.2, ENST00000639386.2, ENST00000639409.1, ENST00000639548.1, ENST00000639916.1, ENST00000640125.1, ENST00000640368.2, ENST00000640610.1, ENST00000640684.1, ENST00000640975.1, ENST00000643871.1 ) - Associated Disease
- Coloboma, ocular, autosomal dominant
- Source Database
- ClinVar
- Description
- NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp) AND Coloboma, ocular, autosomal dominant
- ClinVar Allele ID
- 48596
- ClinVar RefSeq Alternation Syntax
- NM_001368889.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258465.3:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368910.2:c.355C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368922.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NR_160917.2:n.581C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368904.2:c.-267-957C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368891.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368927.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368917.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368899.2:c.-297C>T
- ClinVar RefSeq Alternation Syntax
- NM_001604.6:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368911.2:c.115C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368928.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368921.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368918.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368900.2:c.-339C>T
- ClinVar RefSeq Alternation Syntax
- NM_001310158.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368890.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368912.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368919.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001310160.2:c.-670C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368903.2:c.-339C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368908.2:c.-339C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368929.2:c.-339C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368887.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258462.3:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368902.2:c.-628C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368909.2:c.-267-957C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368913.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NR_160916.2:n.534C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368892.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368923.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368926.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368916.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368920.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001310159.1:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258463.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368888.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368905.2:c.-670C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368901.2:c.-297C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368894.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368925.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368906.2:c.-297C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368907.2:c.-297C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127612.3:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_000280.6:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368893.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368914.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368924.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258464.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001368915.2:c.112C>T
- ClinVar RefSeq Alternation Syntax
- NM_001310161.3:c.-339C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003883464
- ClinVar Disease
- Coloboma, ocular, autosomal dominant
- Observed Origin Sample
- germline
- Pubmed
- 19876904
- Pubmed
- 15846561
- Pubmed
- 31700164
- Pubmed
- 17406642
Drugs