RGD:15182255 Rat Genome Database

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Variant: RGD:15182255 -  Homo sapiens

RGD ID: 15182255
RS ID: rs138939602
ClinVar ID: CV773918
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDI1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,670,955
GRCh38 X 154,442,608
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001493.3:c.1280C>T
NG_008954.1:g.10697C>T
NG_013233.1:g.3471C>T
NC_000023.11:g.154442608C>T
More... 		08/02/2018 missense variant benign|uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:GDI1
Accession:NM_001493
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 427
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEEYDVIVLGTGLTECILSGIMSVNGKKVLHMDRNPYYGGESSSITPLEELYKRFQLLEGPPESMGRGRDWNVDLIPKF
LMANGQLVKMLLYTEVTRYLDFKVVEGSFVYKGGKIYKVPSTETEALASNLMGMFEKRRFRKFLVFVANFDENDPKTFEG
VDPQTTSMRDVYRKFDLGQDVIDFTGHALALYRTDDYLDQPCLETVNRIKLYSESLARYGKSPYLYPLYGLGELPQGFAR
LSAIYGGTYMLNKPVDDIIMENGKVVGVKSEGEVARCKQLICDPSYIPDRVRKAGQVIRIICILSHPIKNTNDANSCQII
IPQNQVNRKSDIYVCMISYAHNVAAQGKYIAIASTTVETTDPEKEVEPALELLEPIDQKFVAISDLYEPIDDGCESQVFC
SCSYDATTHFETTCNDIKDIYKRMAGMAFDFENMKRKQNDVFGEAEQ*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000930319 CLINVAR
  RCV001818897 CLINVAR
dbSNP (RS) rs138939602 CLINVAR
MedGen CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene GDI1 CLINVAR
OMIM 300104 CLINVAR