RGD:11525975 Rat Genome Database

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Variant: RGD:11525975 -  Homo sapiens

RGD ID: 11525975
RS ID: rs761993636
ClinVar ID: CV247038
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCG  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 35,074,993
GRCh38 9 35,074,996
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004629.1:c.1567G>C
LRG_499t1:c.1567G>C
LRG_499:g.10021G>C
NG_007312.1:g.10021G>C
More... 		07/29/2015 missense variant uncertain significance AllHighlyPenetrant; Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FANCG
Accession:NM_004629
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 523
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQDALEGLRGLLHSLQGLPAAVPVLPLELTVTCNFIIL
RASLAQGFTEDQAQDIQRSLERVLETQEQQGPRLEQGLRELWDSVLRASCLLPELLSALHRLVGLQAALWLSADRLGDLA
LLLETLNGSQSGASKDLLLLLKTWSPPAEELDAPLTLQDAQGLKDVLLTAFAYRQGLQELITGNPDKALSSLHEAASGLC
PRPVLVQVYTALGSCHRKMGNPQRALLYLVAALKEGSAWGPPLLEASRLYQQLGDTTAELESLELLVEALNVPCSSKAPQ
FLIEVELLLPPPDLASPLHCGTQSQTKHILASRCLQTGRAGDAAEHYLDLLALLLDSSEPRFSPPPSPPGPCMPEVFLEA
AVALIQAGRAQDALTLCEELLSRTSSLLPKMSRLWEDARKGTKELPYCPLWVSATHLLQGQAWVQLGAQKVAISEFSRCL
ELLFRATPEEKEQGAAFNCEQGCKSDAALQQLRAAALISRGLQWVASGQDTKALQDFLLSVQMCPGNRDTYFHLLQTLKR
LDRRDEATALWWRLEAQTKGSHEDALWSLPLYLESYLSWIRPSDRDAFLEEFRTSLPKSCDL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000239137 CLINVAR
  RCV002519861 CLINVAR
dbSNP (RS) rs761993636 CLINVAR
MedGen C0015625 CLINVAR
  CN169374 CLINVAR
NCBI Gene FANCG CLINVAR
OMIM 227650 CLINVAR
  602956 CLINVAR
SNOMED CT 30575002 CLINVAR