Annotation Detail
Information
- Associated Genes
- MUTYH
- Associated Variants
-
MUTYH p.Arg179Cys (p.R179C), ENSG00000288208 p.Arg350Cys (p.R350C)
(
ENST00000456914.7,
ENST00000531105.5,
ENST00000488731.6,
ENST00000713751.1,
ENST00000355498.6,
ENST00000528013.6,
ENST00000412971.6,
ENST00000372104.5,
ENST00000354383.10,
ENST00000672314.2,
ENST00000483127.2,
ENST00000372115.7,
ENST00000529984.5,
ENST00000372110.7,
ENST00000713750.1,
ENST00000710952.2,
ENST00000529892.6,
ENST00000372098.7,
ENST00000448481.5,
ENST00000672818.3 )
MUTYH p.Arg179Cys (p.R179C), ENSG00000288208 p.Arg350Cys (p.R350C) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 ) - Associated Disease
- pilomatrixoma
- Source Database
- ClinVar
- Description
- NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) AND Pilomatrixoma
- ClinVar Allele ID
- 181710
- ClinVar RefSeq Alternation Syntax
- NM_001350651.2:c.115C>T
- ClinVar RefSeq Alternation Syntax
- NM_001048172.2:c.463C>T
- ClinVar RefSeq Alternation Syntax
- NR_146882.2:n.688C>T
- ClinVar RefSeq Alternation Syntax
- NM_001048174.2:c.460C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293196.2:c.184C>T
- ClinVar RefSeq Alternation Syntax
- NM_001048171.2:c.460C>T
- ClinVar RefSeq Alternation Syntax
- NM_001128425.2:c.544C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293192.2:c.184C>T
- ClinVar RefSeq Alternation Syntax
- NM_001350650.2:c.115C>T
- ClinVar RefSeq Alternation Syntax
- NM_012222.3:c.535C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293191.2:c.493C>T
- ClinVar RefSeq Alternation Syntax
- NM_001048173.2:c.460C>T
- ClinVar RefSeq Alternation Syntax
- NR_146883.2:n.537C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293190.2:c.505C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293195.2:c.460C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-11-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002272151
- ClinVar Disease
- Pilomatrixoma
- Observed Origin Sample
- germline
Drugs