RGD:151835096 Rat Genome Database

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Variant: RGD:151835096 -  Homo sapiens

RGD ID: 151835096
RS ID: rs537411703
ClinVar ID: CV1394410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM20C  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 193,578
GRCh38 7 193,578
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.379G>A
NG_033970.1:g.5610G>A
NC_000007.14:g.193578G>A
NC_000007.13:g.193578G>A
More...
09/01/2023 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FAM20C
Accession:NM_020223
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDA
GWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPSALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRI
LDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANNICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKR
KTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNG
RGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQPHLEALDRRLRVVLKAVRDC
VERNGLHSVVDDDLDTEHRAASAR*

Gene Symbol:FAM20C
Accession:XM_047420625
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDA
GWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPSALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVDFTGTSCMSDPLSGWWGVEDEFSLNEICCLCGPDSPRKRHTRTVPDPEEERALQSRARQ
PGRVERRGLHWEGLRTFHRVCRAAYLPGGSVLAGRGMREPCTPARAFGRSSTQVRKSPVPLSV*

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002051119 CLINVAR
  RCV002545661 CLINVAR
dbSNP (RS) rs537411703 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene FAM20C CLINVAR
OMIM 611061 CLINVAR