NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser)Rat Genome Database

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Variant : CV535367 (NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser)) Homo sapiens

Symbol: CV535367
Name: NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser)
RGD ID: 13609054
Condition: Cerebral arteriovenous malformation [RCV000656332]
Clinical Significance: likely pathogenic
Last Evaluated: 02/14/2018
Review Status: criteria provided, single submitter
Related Genes: IL17RD  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_017563.3:c.676G>A
NG_047158.1:g.69390G>A
NP_060033.3:p.Gly226Ser
NC_000003.12:g.57105928C>T
NC_000003.11:g.57139956C>T
NM_001318864.1:c.244G>A
NM_017563.5:c.676G>A
NP_001305793.1:p.Gly82Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38357,105,928 - 57,105,928CLINVAR
GRCh37357,139,956 - 57,139,956CLINVAR
Cytogenetic Map33p14.3CLINVAR
Trait Synonyms: Arteriovenous malformations of the brain; CEREBRAL ARTERIOVENOUS MALFORMATIONS; Cerebral AV malformation



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000656332 CLINVAR
dbSNP (RS) rs577890523 CLINVAR
MedGen C0917804 CLINVAR
NCBI Gene IL17RD CLINVAR
OMIM 108010 CLINVAR
  606807 CLINVAR
SNOMED CT 234142008 CLINVAR