RGD:14738883 Rat Genome Database

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Variant: RGD:14738883 -  Homo sapiens

RGD ID: 14738883
RS ID: rs1587140699
ClinVar ID: CV638228
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCG  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 35,075,976
GRCh38 9 35,075,979
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004629.2:c.1126G>T
NP_004620.1:p.Asp376Tyr
NG_007887.1:g.1764G>T
LRG_499t1:c.1126G>T
More... 		03/20/2019 missense variant uncertain significance 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: D to Y (nonsynonymous)
Amino Acid Position: 376
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQDALEGLRGLLHSLQGLPAAVPVLPLELTVTCNFIIL
RASLAQGFTEDQAQDIQRSLERVLETQEQQGPRLEQGLRELWDSVLRASCLLPELLSALHRLVGLQAALWLSADRLGDLA
LLLETLNGSQSGASKDLLLLLKTWSPPAEELDAPLTLQDAQGLKDVLLTAFAYRQGLQELITGNPDKALSSLHEAASGLC
PRPVLVQVYTALGSCHRKMGNPQRALLYLVAALKEGSAWGPPLLEASRLYQQLGDTTAELESLELLVEALNVPCSSKAPQ
FLIEVELLLPPPDLASPLHCGTQSQTKHILASRCLQTGRAGDAAEHYLDLLALLLYSSEPRFSPPPSPPGPCMPEVFLEA
AVALIQAGRAQDALTLCEELLSRTSSLLPKMSRLWEDARKGTKELPYCPLWVSATHLLQGQAWVQLGAQKVAISEFSRCL
ELLFRATPEEKEQGAAFNCEQGCKSDAALQQLRAAALISRGLEWVASGQDTKALQDFLLSVQMCPGNRDTYFHLLQTLKR
LDRRDEATALWWRLEAQTKGSHEDALWSLPLYLESYLSWIRPSDRDAFLEEFRTSLPKSCDL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000821116 CLINVAR
dbSNP (RS) rs1587140699 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCG CLINVAR
OMIM 227650 CLINVAR
  602956 CLINVAR
SNOMED CT 30575002 CLINVAR