RGD:151823255 Rat Genome Database

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Variant: RGD:151823255 -  Homo sapiens

RGD ID: 151823255
RS ID: rs200381918
ClinVar ID: CV1378358
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM20C  LOC127408037  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 195,606
GRCh38 7 195,606
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.658G>A
NG_033970.1:g.7638G>A
NC_000007.14:g.195606G>A
NC_000007.13:g.195606G>A
More...
09/01/2021 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FAM20C
Accession:XM_047420625
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDA
GWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAMDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVDFTGTSCMSDPLSGWWGVEDEFSLNEICCLCGPDSPRKRHTRTVPDPEEERALQSRARQ
PGRVERRGLHWEGLRTFHRVCRAAYLPGGSVLAGRGMREPCTPARAFGRSSTQVRKSPVPLSV*

Gene Symbol:FAM20C
Accession:NM_020223
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDA
GWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAMDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRI
LDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANNICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKR
KTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNG
RGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQPHLEALDRRLRVVLKAVRDC
VERNGLHSVVDDDLDTEHRAASAR*

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002050010 CLINVAR
  RCV002543470 CLINVAR
dbSNP (RS) rs200381918 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene FAM20C CLINVAR
OMIM 611061 CLINVAR