NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV178328 (NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)) Homo sapiens

Symbol: CV178328
Name: NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)
RGD ID: 9693627
Condition: Cerebral arteriovenous malformation [RCV000987280]|Delayed puberty [RCV000156942]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 05/28/2019
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: IL17RD  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: case-control|clinical testing
HGVS Name(s): NC_000003.12:g.57106133G>A
NC_000003.11:g.57140161G>A
NP_060033.3:p.Pro191Leu
NM_017563.3:c.572C>T
NG_047158.1:g.69185C>T
NM_001318864.1:c.140C>T
NP_001305793.1:p.Pro47Leu
NM_017563.5:c.572C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38357,106,133 - 57,106,133CLINVAR
GRCh37357,140,161 - 57,140,161CLINVAR
Cytogenetic Map33p14.3CLINVAR
Trait Synonyms: Arteriovenous malformations of the brain; CEREBRAL ARTERIOVENOUS MALFORMATIONS; Cerebral AV malformation; Delayed pubertal development; Delayed pubertal growth; Pubertal delay



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:25636053  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000156942 CLINVAR
  RCV000987280 CLINVAR
dbSNP (RS) rs200088377 CLINVAR
MedGen C0034012 CLINVAR
  C0917804 CLINVAR
NCBI Gene IL17RD CLINVAR
OMIM 108010 CLINVAR
  606807 CLINVAR
SNOMED CT 234142008 CLINVAR