Annotation Detail
Information
- Associated Genes
- UMOD
- Associated Variants
-
UMOD p.Thr667Ile (p.T667I)
(
ENST00000570689.5,
ENST00000396134.6,
ENST00000396138.9 )
UMOD p.Thr667Ile (p.T667I) ( ENST00000396134.6, ENST00000396138.9, ENST00000570689.5 ) - Associated Disease
- Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
- Source Database
- ClinVar
- Description
- NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile) AND Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
- ClinVar Allele ID
- 976138
- ClinVar RefSeq Alternation Syntax
- NR_165456.1:n.2124C>T
- ClinVar RefSeq Alternation Syntax
- NM_001008389.3:c.1901C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378234.1:c.2042C>T
- ClinVar RefSeq Alternation Syntax
- NM_003361.4:c.1901C>T
- ClinVar RefSeq Alternation Syntax
- NM_001278614.2:c.2000C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378232.1:c.1901C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378233.1:c.1901C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378235.1:c.2042C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001328182
- ClinVar Disease
- Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
- Observed Origin Sample
- unknown
Drugs