RGD:12885471 Rat Genome Database

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Variant: RGD:12885471 -  Homo sapiens

RGD ID: 12885471
RS ID: rs1060504370
ClinVar ID: CV397301
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 35,078,315
GRCh38 9 35,078,318
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_499t1:c.333G>A
LRG_499:g.6699G>A
NG_007312.1:g.6699G>A
NC_000009.12:g.35078318C>T
More... 		03/26/2019 synonymous variant likely benign 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: G to G (synonymous)
Amino Acid Position: 111
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQDALEGLRGLLHSLQGLPAAVPVLPLELTVTCNFIIL
RASLAQGFTEDQAQDIQRSLERVLETQEQQGPRLEQGLRELWDSVLRASCLLPELLSALHRLVGLQAALWLSADRLGDLA
LLLETLNGSQSGASKDLLLLLKTWSPPAEELDAPLTLQDAQGLKDVLLTAFAYRQGLQELITGNPDKALSSLHEAASGLC
PRPVLVQVYTALGSCHRKMGNPQRALLYLVAALKEGSAWGPPLLEASRLYQQLGDTTAELESLELLVEALNVPCSSKAPQ
FLIEVELLLPPPDLASPLHCGTQSQTKHILASRCLQTGRAGDAAEHYLDLLALLLDSSEPRFSPPPSPPGPCMPEVFLEA
AVALIQAGRAQDALTLCEELLSRTSSLLPKMSRLWEDARKGTKELPYCPLWVSATHLLQGQAWVQLGAQKVAISEFSRCL
ELLFRATPEEKEQGAAFNCEQGCKSDAALQQLRAAALISRGLEWVASGQDTKALQDFLLSVQMCPGNRDTYFHLLQTLKR
LDRRDEATALWWRLEAQTKGSHEDALWSLPLYLESYLSWIRPSDRDAFLEEFRTSLPKSCDL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000465407 CLINVAR
dbSNP (RS) rs1060504370 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCG CLINVAR
OMIM 227650 CLINVAR
  602956 CLINVAR
SNOMED CT 30575002 CLINVAR