Annotation Detail
Information
- Associated Genes
- IMPDH1
- Associated Variants
-
IMPDH1 p.Arg309Pro (p.R309P)
(
ENST00000338791.11,
ENST00000348127.11,
ENST00000354269.9,
ENST00000419067.6,
ENST00000470772.5,
ENST00000480861.5,
ENST00000496200.5 )
IMPDH1 p.Arg309Pro (p.R309P) ( ENST00000338791.11, ENST00000348127.11, ENST00000354269.9, ENST00000419067.6, ENST00000470772.5, ENST00000480861.5, ENST00000496200.5 ) - Associated Disease
- retinitis pigmentosa 10
- Source Database
- ClinVar
- Description
- NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro) AND Retinitis pigmentosa 10
- ClinVar Allele ID
- 29875
- ClinVar RefSeq Alternation Syntax
- NM_001304521.2:c.719G>C
- ClinVar RefSeq Alternation Syntax
- NM_000883.4:c.926G>C
- ClinVar RefSeq Alternation Syntax
- NM_001102605.2:c.896G>C
- ClinVar RefSeq Alternation Syntax
- NM_001142573.2:c.671G>C
- ClinVar RefSeq Alternation Syntax
- NM_001142574.2:c.656G>C
- ClinVar RefSeq Alternation Syntax
- NM_183243.3:c.818G>C
- ClinVar RefSeq Alternation Syntax
- NM_001142576.2:c.827G>C
- ClinVar RefSeq Alternation Syntax
- NM_001142575.2:c.596G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015961
- ClinVar Disease
- Retinitis pigmentosa 10
- Observed Origin Sample
- germline
- Pubmed
- 11875049
Drugs