RGD:13832522 Rat Genome Database

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Variant: RGD:13832522 -  Homo sapiens

RGD ID: 13832522
RS ID: rs1562400300
ClinVar ID: CV583017
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM20C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 297,022
GRCh38 7 257,056
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033970.1:g.66692C>T
NC_000007.13:g.297022C>T
NC_000007.14:g.257056C>T
NP_064608.2:p.Thr472Met
More...
09/16/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FAM20C
Accession:NM_020223
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 472
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDA
GWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRI
LDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANNICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKR
KTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNEMFIIHLDNG
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 RCV000723212 CLINVAR
dbSNP (RS) rs1562400300 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene FAM20C CLINVAR
OMIM 611061 CLINVAR