Annotation Detail

Information
Associated Genes
IL17RC
Associated Variants
ENSG00000288550 p.Ser111Leu (p.S111L), IL17RC p.Ser182Leu (p.S182L) ( ENST00000295981.7, ENST00000383812.9, ENST00000403601.8, ENST00000413608.2, ENST00000416074.6, ENST00000438091.6, ENST00000451165.7, ENST00000455057.5, ENST00000483582.5, ENST00000696816.1, ENST00000696823.1, ENST00000696824.1, ENST00000696825.1, ENST00000696826.1, ENST00000696828.1, ENST00000696830.1, ENST00000696832.1 )
ENSG00000288550 p.Ser111Leu (p.S111L), IL17RC p.Ser182Leu (p.S182L) ( ENST00000295981.7, ENST00000383812.9, ENST00000403601.8, ENST00000413608.2, ENST00000416074.6, ENST00000438091.6, ENST00000451165.7, ENST00000455057.5, ENST00000483582.5, ENST00000696816.1, ENST00000696823.1, ENST00000696824.1, ENST00000696825.1, ENST00000696826.1, ENST00000696828.1, ENST00000696830.1, ENST00000696832.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_153460.4(IL17RC):c.332C>T (p.Ser111Leu) AND not provided
ClinVar Allele ID
1154573
ClinVar RefSeq Alternation Syntax
NM_001203265.2:c.332C>T
ClinVar RefSeq Alternation Syntax
NM_032732.6:c.332C>T
ClinVar RefSeq Alternation Syntax
NM_001367280.1:c.332C>T
ClinVar RefSeq Alternation Syntax
NM_001203264.2:c.332C>T
ClinVar RefSeq Alternation Syntax
NM_001367278.1:c.332C>T
ClinVar RefSeq Alternation Syntax
NM_153460.4:c.332C>T
ClinVar RefSeq Alternation Syntax
NM_001367279.1:c.281-114C>T
ClinVar RefSeq Alternation Syntax
NM_001203263.2:c.332C>T
ClinVar RefSeq Alternation Syntax
NR_037807.2:n.550C>T
ClinVar RefSeq Alternation Syntax
NM_153461.4:c.545C>T
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001824981
ClinVar Disease
not provided
Observed Origin Sample
unknown
Drugs