RGD:150409841 Rat Genome Database

Send us a Message



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

Variant: RGD:150409841 -  Homo sapiens

RGD ID: 150409841
RS ID: rs146778412
ClinVar ID: CV1175321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM20C  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 286,534
GRCh38 7 246,568
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.956+61A>G
NG_033970.1:g.56204A>G
NC_000007.14:g.246568A>G
NC_000007.13:g.286534A>G
07/14/2021 intron variant benign Combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis; none provided; Osteomalacia, sclerosing, with cerebral calcification; Raine syndrome
Disease Annotations     Click to see Annotation Detail View
Raine Syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FAM20C
Accession:NM_020223
Location:INTRON

Gene Symbol:FAM20C
Accession:XM_047420625
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001544306 CLINVAR
  RCV001619968 CLINVAR
dbSNP (RS) rs146778412 CLINVAR
MedGen C1850106 CLINVAR
  C3661900 CLINVAR
NCBI Gene FAM20C CLINVAR
OMIM 259775 CLINVAR
  611061 CLINVAR