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 specified
- Source Database
- ClinVar
- Description
- NM_153460.4(IL17RC):c.332C>T (p.Ser111Leu) AND not specified
- 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
- Benign
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003487385
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs