RGD:13530649 Rat Genome Database

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Variant: RGD:13530649 -  Homo sapiens

RGD ID: 13530649
RS ID: rs775644973
ClinVar ID: CV512439
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RSPO4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 982,728
GRCh38 20 1,002,085
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001029871.4:c.79+1G>A
NM_001029871.3:c.79+1G>A
NC_000020.11:g.1002085C>T
NC_000020.10:g.982728C>T
More... 		09/12/2016 splice donor variant pathogenic ANONYCHIA TOTALIS; ANONYCHIA/HYPONYCHIA CONGENITA; Hyponychia congenita; NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Anonychia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:RSPO4
Accession:XM_017027839
Location:INTRON

Gene Symbol:RSPO4
Accession:NM_001040007
Location:INTRON

Gene Symbol:RSPO4
Accession:NM_001029871
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000622661 CLINVAR
  RCV003222063 CLINVAR
  RCV003444150 CLINVAR
dbSNP (RS) rs775644973 CLINVAR
MedGen C0265998 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene RSPO4 CLINVAR
OMIM 206800 CLINVAR
  610573 CLINVAR
SNOMED CT 23610003 CLINVAR