RGD:38461100 Rat Genome Database

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Variant: RGD:38461100 -  Homo sapiens

RGD ID: 38461100
RS ID: rs1232400875
ClinVar ID: CV919100
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM20C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 296,982
GRCh38 7 257,016
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.1375C>T
NG_033970.1:g.66652C>T
NC_000007.14:g.257016C>T
NM_020223.2:c.1375C>T
More...
03/20/2020 missense variant uncertain significance 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


Variant Details
Variant Transcripts
Gene Symbol:FAM20C
Accession:NM_020223
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 459
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDA
GWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRI
LDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANNICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKR
KTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDCHHYETFEKFGNETFIIHLDNG
RGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQPHLEALDRRLRVVLKAVRDC
VERNGLHSVVDDDLDTEHRAASAR*

Gene Symbol:FAM20C
Accession:XM_047420625
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001196925 CLINVAR
  RCV002559251 CLINVAR
dbSNP (RS) rs1232400875 CLINVAR
MedGen C0950123 CLINVAR
  C1850106 CLINVAR
NCBI Gene FAM20C CLINVAR
OMIM 259775 CLINVAR
  611061 CLINVAR