RGD:8641997 Rat Genome Database

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Variant: RGD:8641997 -  Homo sapiens

RGD ID: 8641997
RS ID: rs398124157
ClinVar ID: CV100981
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 54,491,964
GRCh38 X 54,465,531
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008054.1:g.35636G>A
NC_000023.11:g.54465531C>T
NC_000023.10:g.54491964C>T
NM_004463.3:c.1556G>A
More... 		10/19/2022 missense|missense variant likely pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGD1
Accession:NM_004463
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 519
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHGHRAPGGAGPSEPEHPATNPPGAAPPACADSDPGASEPGLLARRGSGSALGGPLDPQFVGPSDTSLGAAPGHRVLPCG
PSPQHHRALRFSYHLEGSQPRPGLHQGNRILVKSLSLDPGQSLEPHPEGPQRLRSDPGPPTETPSQRPSPLKRAPGPKPQ
VPPKPSYLQMPRMPPPLEPIPPPPSRPLPADPRVAKGLAPRAEASPSSAAVSSLIEKFEREPVIVASDRPVPGPSPGPPE
PVMLPQPTSQPPVPQLPEGEASRCLFLLAPGPRDGEKVPNRDSGIDSISSPSNSEETCFVSDDGPPSHSLCPGPPALASV
PVALADPHRPGSQEVDSDLEEEDDEEEEEEKDREIPVPLMERQESVELTVQQKVFHIANELLQTEKAYVSRLHLLDQVFC
ARLLEEARNRSSFPADVVHGIFSNICSIYCFHQQFLLPELEKRMEEWDRYPRIGDILQKLAPFLKMYGEYVKNFDRAVEL
VNTWTERSTQFKVIIHEVQKEEACGNLTLQHHMLEPVQHIPRYELLLKDYLLKLPHGSPDSKDAQKSLELIATAAEHSNA
AIRKMERMHKLLKVYELLGGEEDIVSPTKELIKEGHILKLSAKNGTTQDRYLILFNDRLLYCVPRLRLLGQKFSVRARID
VDGMELKESSNLNLPRTFLVSGKQRSLELQARTEEEKKDWVQAINSTLLKHEQTLETFKLLNSTNREDEDTPPNSPNVDL
GKRAPTPIREKEVTMCMRCQEPFNSITKRRHHCKACGHVVCGKCSEFRARLVYDNNRSNRVCTDCYVALHGVPGSSPACS
QHTPQRRRSILEKQASVAAENSVICSFLHYMEKGGKGWHKAWFVVPENEPLVLYIYGAPQDVKAQRSLPLIGFEVGPPEA
GERPDRRHVFKITQSHLSWYFSPETEELQRRWMAVLGRAGRGDTFCPGPTLSEDREMEEAPVAALGATAEPPESPQTRDK
T*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000081086 CLINVAR
  RCV000721053 CLINVAR
  RCV002051807 CLINVAR
  RCV003905059 CLINVAR
dbSNP (RS) rs398124157 CLINVAR
MedGen C2711754 CLINVAR
  C3275558 CLINVAR
  C3661900 CLINVAR
NCBI Gene FGD1 CLINVAR
OMIM 300546 CLINVAR