RGD:9850330 Rat Genome Database

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Variant: RGD:9850330 -  Homo sapiens

RGD ID: 9850330
RS ID: rs730882220
ClinVar ID: CV181426
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM20C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 295,967
GRCh38 7 256,001
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.256001C>T
NC_000007.13:g.295967C>T
NP_064608.2:p.Arg409Cys
NM_020223.4:c.1225C>T
More... 		12/01/2014 missense variant likely pathogenic Abnormal facial shape; Cortical dysplasia; Dysmorphic facial features; Dysmorphic facies; Severe brain malformation
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Neonatal death  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:FAM20C
Accession:NM_020223
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 409
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDA
GWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRI
LDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANNICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKR
KTWRNPWRCSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNG
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:25558065  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000162130 CLINVAR
dbSNP (RS) rs730882220 CLINVAR
MedGen C0410916 CLINVAR
NCBI Gene FAM20C CLINVAR
OMIM 611061 CLINVAR
SNOMED CT 248200007 CLINVAR