RGD:8642001 Rat Genome Database

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Variant: RGD:8642001 -  Homo sapiens

RGD ID: 8642001
RS ID: rs398124160
ClinVar ID: CV100985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 54,521,691
GRCh38 X 54,495,258
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008054.1:g.5909C>T
NC_000023.11:g.54495258G>A
NC_000023.10:g.54521691G>A
NP_004454.2:p.Gln59*
More...
10/09/2012 nonsense|stop-gain pathogenic childhood 1-9 / 1 000 000|1-9 / 100 000 none provided

Variant Details
Variant Transcripts
Gene Symbol:FGD1
Accession:NM_004463
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHGHRAPGGAGPSEPEHPATNPPGAAPPACADSDPGASEPGLLARRGSGSALGGPLDP*FVGPSDTSLGAAPGHRVLPCG
PSPQHHRALRFSYHLEGSQPRPGLHQGNRILVKSLSLDPGQSLEPHPEGPQRLRSDPGPPTETPSQRPSPLKRAPGPKPQ
VPPKPSYLQMPRMPPPLEPIPPPPSRPLPADPRVAKGLAPRAEASPSSAAVSSLIEKFEREPVIVASDRPVPGPSPGPPE
PVMLPQPTSQPPVPQLPEGEASRCLFLLAPGPRDGEKVPNRDSGIDSISSPSNSEETCFVSDDGPPSHSLCPGPPALASV
PVALADPHRPGSQEVDSDLEEEDDEEEEEEKDREIPVPLMERQESVELTVQQKVFHIANELLQTEKAYVSRLHLLDQVFC
ARLLEEARNRSSFPADVVHGIFSNICSIYCFHQQFLLPELEKRMEEWDRYPRIGDILQKLAPFLKMYGEYVKNFDRAVEL
VNTWTERSTQFKVIIHEVQKEEACGNLTLQHHMLEPVQRIPRYELLLKDYLLKLPHGSPDSKDAQKSLELIATAAEHSNA
AIRKMERMHKLLKVYELLGGEEDIVSPTKELIKEGHILKLSAKNGTTQDRYLILFNDRLLYCVPRLRLLGQKFSVRARID
VDGMELKESSNLNLPRTFLVSGKQRSLELQARTEEEKKDWVQAINSTLLKHEQTLETFKLLNSTNREDEDTPPNSPNVDL
GKRAPTPIREKEVTMCMRCQEPFNSITKRRHHCKACGHVVCGKCSEFRARLVYDNNRSNRVCTDCYVALHGVPGSSPACS
QHTPQRRRSILEKQASVAAENSVICSFLHYMEKGGKGWHKAWFVVPENEPLVLYIYGAPQDVKAQRSLPLIGFEVGPPEA
GERPDRRHVFKITQSHLSWYFSPETEELQRRWMAVLGRAGRGDTFCPGPTLSEDREMEEAPVAALGATAEPPESPQTRDK
T*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000173343 CLINVAR
dbSNP (RS) rs398124160 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene FGD1 CLINVAR
OMIM 300546 CLINVAR