RGD:8595274 Rat Genome Database

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Variant: RGD:8595274 -  Homo sapiens

RGD ID: 8595274
RS ID: rs267606795
ClinVar ID: CV16062
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM20C  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 295,835
GRCh38 7 255,869
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_020223.4:c.1093G>C
NG_033970.1:g.65505G>C
NC_000007.14:g.255869G>C
NC_000007.13:g.295835G>C
More...
02/08/2013 missense|missense variant pathogenic neonatal/infancy <1 / 1 000 000 Combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis; 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:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDA
GWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRI
LDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANNICFYRECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKR
KTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNG
RGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQPHLEALDRRLRVVLKAVRDC
VERNGLHSVVDDDLDTEHRAASAR*

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

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

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

Gene Symbol:FAM20C
Accession:XM_047420625
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:17924334  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001078 CLINVAR
dbSNP (RS) rs267606795 CLINVAR
MedGen C1850106 CLINVAR
NCBI Gene FAM20C CLINVAR
OMIM 259775 CLINVAR
  611061 CLINVAR
OMIM Allele 611061.0001 CLINVAR