RGD:152107860 Rat Genome Database

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Variant: RGD:152107860 -  Homo sapiens

RGD ID: 152107860
RS ID: rs748963569
ClinVar ID: CV1634699
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCG  LOC127814682  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 35,079,507
GRCh38 9 35,079,510
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.15C>G
LRG_499:g.5507C>G
NG_007312.1:g.5507C>G
NC_000009.12:g.35079510G>C
More... 		07/19/2021 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: T to T (synonymous)
Amino Acid Position: 5
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 RCV002079848 CLINVAR
dbSNP (RS) rs748963569 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCG CLINVAR
OMIM 227650 CLINVAR
  602956 CLINVAR
SNOMED CT 30575002 CLINVAR