RGD:13703607 Rat Genome Database

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Variant: RGD:13703607 -  Homo sapiens

RGD ID: 13703607
RS ID: rs1557189455
ClinVar ID: CV538320
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 54,494,316
GRCh38 X 54,467,883
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.33284C>T
NC_000023.11:g.54467883G>A
NC_000023.10:g.54494316G>A
NP_004454.2:p.Pro414Leu
More... 		11/01/2016 missense variant likely pathogenic Aarskog disease; Aarskog Scott syndrome; AARSKOG-SCOTT SYNDROME WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER; Aarskog-Scott syndrome, X-linked; FGDY; 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: P to L (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHGHRAPGGAGPSEPEHPATNPPGAAPPACADSDPGASEPGLLARRGSGSALGGPLDPQFVGPSDTSLGAAPGHRVLPCG
PSPQHHRALRFSYHLEGSQPRPGLHQGNRILVKSLSLDPGQSLEPHPEGPQRLRSDPGPPTETPSQRPSPLKRAPGPKPQ
VPPKPSYLQMPRMPPPLEPIPPPPSRPLPADPRVAKGLAPRAEASPSSAAVSSLIEKFEREPVIVASDRPVPGPSPGPPE
PVMLPQPTSQPPVPQLPEGEASRCLFLLAPGPRDGEKVPNRDSGIDSISSPSNSEETCFVSDDGPPSHSLCPGPPALASV
PVALADPHRPGSQEVDSDLEEEDDEEEEEEKDREIPVPLMERQESVELTVQQKVFHIANELLQTEKAYVSRLHLLDQVFC
ARLLEEARNRSSFLADVVHGIFSNICSIYCFHQQFLLPELEKRMEEWDRYPRIGDILQKLAPFLKMYGEYVKNFDRAVEL
VNTWTERSTQFKVIIHEVQKEEACGNLTLQHHMLEPVQRIPRYELLLKDYLLKLPHGSPDSKDAQKSLELIATAAEHSNA
AIRKMERMHKLLKVYELLGGEEDIVSPTKELIKEGHILKLSAKNGTTQDRYLILFNDRLLYCVPRLRLLGQKFSVRARID
VDGMELKESSNLNLPRTFLVSGKQRSLELQARTEEEKKDWVQAINSTLLKHEQTLETFKLLNSTNREDEDTPPNSPNVDL
GKRAPTPIREKEVTMCMRCQEPFNSITKRRHHCKACGHVVCGKCSEFRARLVYDNNRSNRVCTDCYVALHGVPGSSPACS
QHTPQRRRSILEKQASVAAENSVICSFLHYMEKGGKGWHKAWFVVPENEPLVLYIYGAPQDVKAQRSLPLIGFEVGPPEA
GERPDRRHVFKITQSHLSWYFSPETEELQRRWMAVLGRAGRGDTFCPGPTLSEDREMEEAPVAALGATAEPPESPQTRDK
T*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000659634 CLINVAR
  RCV001268403 CLINVAR
dbSNP (RS) rs1557189455 CLINVAR
MedGen C0175701 CLINVAR
  CN517202 CLINVAR
NCBI Gene FGD1 CLINVAR
OMIM 300546 CLINVAR
  305400 CLINVAR
SNOMED CT 14921002 CLINVAR