RGD:8568643 Rat Genome Database

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Variant: RGD:8568643 -  Homo sapiens

RGD ID: 8568643
RS ID: rs2115173146
ClinVar ID: CV39832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM20C  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 296,717
GRCh38 7 256,751
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
NG_033970.1:g.66387G>A
NM_020223.4:c.1351G>A
NC_000007.14:g.256751G>A
NC_000007.13:g.296717G>A
More...
06/15/2022 missense variant pathogenic|likely 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; 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:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDA
GWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRI
LDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANNICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKR
KTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIFNFLMGNMDRHHYETFEKFGNETFIIHLDNG
RGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQPHLEALDRRLRVVLKAVRDC
VERNGLHSVVDDDLDTEHRAASAR*

Gene Symbol:FAM20C
Accession:XM_047420625
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:19250384  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000023860 CLINVAR
  RCV002468976 CLINVAR
dbSNP (RS) rs2115173146 CLINVAR
MedGen C1850106 CLINVAR
  C3661900 CLINVAR
NCBI Gene FAM20C CLINVAR
OMIM 259775 CLINVAR
  611061 CLINVAR
OMIM Allele 611061.0009 CLINVAR