RGD:152174529 Rat Genome Database

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Variant: RGD:152174529 -  Homo sapiens

RGD ID: 152174529
RS ID: rs569922710
ClinVar ID: CV1567260
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM20C  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 296,004
GRCh38 7 256,038
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020223.4:c.1253+9G>A
NG_033970.1:g.65674G>A
NC_000007.14:g.256038G>A
NC_000007.13:g.296004G>A
More... 		02/20/2021 intron variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View
Raine Syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FAM20C
Accession:XM_047420625
Location:INTRON

Gene Symbol:FAM20C
Accession:NM_020223
Location:INTRON

Gene Symbol:FAM20C
Accession:XR_007060117
Location:INTRON;NON-CODING

Gene Symbol:FAM20C
Accession:XR_007060116
Location:INTRON;NON-CODING

Gene Symbol:FAM20C
Accession:XR_001744837
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002163187 CLINVAR
  RCV003933622 CLINVAR
dbSNP (RS) rs569922710 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FAM20C CLINVAR
OMIM 611061 CLINVAR