RGD:12834020 Rat Genome Database

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Variant: RGD:12834020 -  Homo sapiens

RGD ID: 12834020
RS ID: rs1057522885
ClinVar ID: CV378005
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDI1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,667,407
GRCh38 X 154,439,061
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.7149G>A
NC_000023.11:g.154439061G>A
NC_000023.10:g.153667407G>A
NP_001484.1:p.Lys103=
More... 		07/08/2016 synonymous variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:GDI1
Accession:NM_001493
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEEYDVIVLGTGLTECILSGIMSVNGKKVLHMDRNPYYGGESSSITPLEELYKRFQLLEGPPESMGRGRDWNVDLIPKF
LMANGQLVKMLLYTEVTRYLDFKVVEGSFVYKGGKIYKVPSTETEALASNLMGMFEKRRFRKFLVFVANFDENDPKTFEG
VDPQTTSMRDVYRKFDLGQDVIDFTGHALALYRTDDYLDQPCLETVNRIKLYSESLARYGKSPYLYPLYGLGELPQGFAR
LSAIYGGTYMLNKPVDDIIMENGKVVGVKSEGEVARCKQLICDPSYIPDRVRKAGQVIRIICILSHPIKNTNDANSCQII
IPQNQVNRKSDIYVCMISYAHNVAAQGKYIAIASTTVETTDPEKEVEPALELLEPIDQKFVAISDLYEPIDDGCESQVFC
SCSYDATTHFETTCNDIKDIYKRMAGTAFDFENMKRKQNDVFGEAEQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000419604 CLINVAR
dbSNP (RS) rs1057522885 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GDI1 CLINVAR
OMIM 300104 CLINVAR