RGD:13532612 Rat Genome Database

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Variant: RGD:13532612 -  Homo sapiens

RGD ID: 13532612
RS ID: rs1375956716
ClinVar ID: CV512624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDI1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,668,311
GRCh38 X 154,439,964
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008954.1:g.8053C>T
NC_000023.11:g.154439964C>T
NP_001484.1:p.Arg138Trp
NC_000023.10:g.153668311C>T
More... 		02/13/2015 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GDI1
Accession:NM_001493
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEEYDVIVLGTGLTECILSGIMSVNGKKVLHMDRNPYYGGESSSITPLEELYKRFQLLEGPPESMGRGRDWNVDLIPKF
LMANGQLVKMLLYTEVTRYLDFKVVEGSFVYKGGKIYKVPSTETEALASNLMGMFEKWRFRKFLVFVANFDENDPKTFEG
VDPQTTSMRDVYRKFDLGQDVIDFTGHALALYRTDDYLDQPCLETVNRIKLYSESLARYGKSPYLYPLYGLGELPQGFAR
LSAIYGGTYMLNKPVDDIIMENGKVVGVKSEGEVARCKQLICDPSYIPDRVRKAGQVIRIICILSHPIKNTNDANSCQII
IPQNQVNRKSDIYVCMISYAHNVAAQGKYIAIASTTVETTDPEKEVEPALELLEPIDQKFVAISDLYEPIDDGCESQVFC
SCSYDATTHFETTCNDIKDIYKRMAGTAFDFENMKRKQNDVFGEAEQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000624361 CLINVAR
dbSNP (RS) rs1375956716 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene GDI1 CLINVAR
OMIM 300104 CLINVAR