Annotation Detail
Information
- Associated Genes
- MUC1
- Associated Variants
-
MUC1 p.Thr22= (p.T22=)
(
ENST00000471283.5,
ENST00000620103.4,
ENST00000615517.4,
ENST00000457295.6,
ENST00000368392.7,
ENST00000343256.9,
ENST00000338684.9,
ENST00000368389.6,
ENST00000368396.8,
ENST00000342482.8,
ENST00000368390.7,
ENST00000368393.7,
ENST00000368398.7,
ENST00000610359.4,
ENST00000438413.5,
ENST00000337604.6 )
MUC1 p.Thr22= (p.T22=) ( ENST00000337604.6, ENST00000338684.9, ENST00000342482.8, ENST00000343256.9, ENST00000368389.6, ENST00000368390.7, ENST00000368392.7, ENST00000368393.7, ENST00000368396.8, ENST00000368398.7, ENST00000438413.5, ENST00000457295.6, ENST00000471283.5, ENST00000610359.4, ENST00000615517.4, ENST00000620103.4 ) - Associated Disease
- Tubulointerstitial kidney disease, autosomal dominant, 2
- Source Database
- ClinVar
- Description
- NM_001204286.1(MUC1):c.93G>A (p.Thr31=) AND Tubulointerstitial kidney disease, autosomal dominant, 2
- ClinVar Allele ID
- 1311421
- ClinVar RefSeq Alternation Syntax
- NM_001204287.2:c.93G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204293.2:c.66G>A
- ClinVar RefSeq Alternation Syntax
- NM_001044390.3:c.66G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204288.2:c.93G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204292.1:c.93G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204294.2:c.66G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204286.1:c.93G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204295.1:c.93G>A
- ClinVar RefSeq Alternation Syntax
- NM_001044391.3:c.66G>A
- ClinVar RefSeq Alternation Syntax
- NM_002456.6:c.66G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204297.2:c.93G>A
- ClinVar RefSeq Alternation Syntax
- NM_001018016.3:c.93G>A
- ClinVar RefSeq Alternation Syntax
- NM_001018017.3:c.66G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204289.2:c.93G>A
- ClinVar RefSeq Alternation Syntax
- NM_001044393.3:c.66G>A
- ClinVar RefSeq Alternation Syntax
- NM_001044392.3:c.93G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204285.2:c.66G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204290.2:c.59-29G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204296.2:c.93G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204291.1:c.93G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371720.2:c.93G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001775529
- ClinVar Disease
- Tubulointerstitial kidney disease, autosomal dominant, 2
- Observed Origin Sample
- germline
Drugs