RGD:126735538 Rat Genome Database

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Variant: RGD:126735538 -  Homo sapiens

RGD ID: 126735538
RS ID: rs775719850
ClinVar ID: CV993445
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 35,078,226
GRCh38 9 35,078,229
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.422G>A
LRG_499:g.6788G>A
NG_007312.1:g.6788G>A
NC_000009.12:g.35078229C>T
More... 		05/18/2021 missense variant uncertain significance Fanconi anemia group G; Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCG
Accession:NM_004629
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQDALEGLRGLLHSLQGLPAAVPVLPLELTVTCNFIIL
RASLAQGFTEDQAQDIQRSLERVLETQEQQGPRLEQGLRELWDSVLRASCLLPELLSALHHLVGLQAALWLSADRLGDLA
LLLETLNGSQSGASKDLLLLLKTWSPPAEELDAPLTLQDAQGLKDVLLTAFAYRQGLQELITGNPDKALSSLHEAASGLC
PRPVLVQVYTALGSCHRKMGNPQRALLYLVAALKEGSAWGPPLLEASRLYQQLGDTTAELESLELLVEALNVPCSSKAPQ
FLIEVELLLPPPDLASPLHCGTQSQTKHILASRCLQTGRAGDAAEHYLDLLALLLDSSEPRFSPPPSPPGPCMPEVFLEA
AVALIQAGRAQDALTLCEELLSRTSSLLPKMSRLWEDARKGTKELPYCPLWVSATHLLQGQAWVQLGAQKVAISEFSRCL
ELLFRATPEEKEQGAAFNCEQGCKSDAALQQLRAAALISRGLEWVASGQDTKALQDFLLSVQMCPGNRDTYFHLLQTLKR
LDRRDEATALWWRLEAQTKGSHEDALWSLPLYLESYLSWIRPSDRDAFLEEFRTSLPKSCDL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001295091 CLINVAR
  RCV001830122 CLINVAR
dbSNP (RS) rs775719850 CLINVAR
MedGen C0015625 CLINVAR
  C3469527 CLINVAR
NCBI Gene FANCG CLINVAR
OMIM 227650 CLINVAR
  602956 CLINVAR
  614082 CLINVAR
SNOMED CT 30575002 CLINVAR