RGD:38485515 Rat Genome Database

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Variant: RGD:38485515 -  Homo sapiens

RGD ID: 38485515
RS ID: rs368896153
ClinVar ID: CV938868
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGEF18  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 7,505,155
GRCh38 19 7,440,269
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001367824.1:c.-146G>A
NM_015318.4:c.-71-75G>A
NM_001130955.2:c.167G>A
NM_001367823.1:c.968-75G>A
More... 		02/24/2020 5 prime utr variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARHGEF18
Accession:NM_001367824
Location:5UTRS;EXON

Gene Symbol:ARHGEF18
Accession:XM_047438527
Location:5UTRS;INTRON

Gene Symbol:ARHGEF18
Accession:NM_015318
Location:5UTRS;INTRON

Gene Symbol:ARHGEF18
Accession:XM_047438526
Location:5UTRS;INTRON

Gene Symbol:ARHGEF18
Accession:XM_047438528
Location:5UTRS;INTRON

Gene Symbol:ARHGEF18
Accession:NM_001130955
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNAHSKSGDRHSALPGRPELSFYGSFPRKWSENVFLDNELLTSKILSVLRPQSEQGFRAGDLRYPTHFLSTNSVLASVT
ASLKEHPRGTLLSDGSPALSRNVGMTVSQKGGPQPTPSPAGPGTQLGPITGEMDEADSAFLKFKQTADDSLSLTSPNTES
IFVEDPYTASLRSEIESDGHEFEAESWSLAVDAAYAKKQKREVVKRQDVLYELMQTEVHHVRTLKIMLKVYSRALQEELQ
FSSKAIGRLFPCADDLLETHSHFLARLKERRQESLEEGSDRNYVIQKIGDLLVQQFSGENGERMKEKYGVFCSGHNEAVS
HYKLLLQQNKKFQNLIKKIGNFSIVRRLGVQECILLVTQRITKYPVLVERIIQNTEAGTEDYEDLTQALNLIKDIISQVD
AKVSECEKGQRLREIAGKMDLKSSSKLKNGLTFRKEDMLQRQLHLEGMLCWKTTSGRLKDILAILLTDVLLLLQEKDQKY
VFASVDSKPPVISLQKLIVREVANEEKAMFLISASLQGPEMYEIYTSSKEDRNAWMAHIQRAVESCPDEEEGPFSLPEEE
RKVVEARATRLRDFQERLSMKDQLIAQSLLEKQQIYLEMAEMGGLEDLPQPRGLFRGGDPSETLQGELILKSAMSEIEGI
QSLICRQLGSANGQAEDGGSSTGPPRRAETFAGYDCTNSPTKNGSFKKKVSSTDPRPRDWRGPPNSPDLKLSDSDIPGSS
EESPQVVEAPGTESDPRLPTVLESELVQRIQTLSQLLLNLQAVIAHQDSYVETQRAAIQEREKQFRLQSTRGNLLLEQER
QRNFEKQREERAALEKLQSQLRHEQQRWERERQWQHQELERAGARLQEREGEARQLRERLEQERAELERQRQAYQHDLER
LREAQRAVERERERLELLRRLKKQNTAPGALPPDTLAEAQPPSHPPSFNGEGLEGPRVSMLPSGVGPEYAERPEVARRDS
APTENRLAKSDVPIQLLSATNQFQRQAAVQQQIPTKLAASTKGGKDKGGKSRGSQRWESSASFDLKQQLLLNKLMGKDES
TSRNRRSLSPILPGRHSPAPPPDPGFPAPSPPPADSPSEGFSLKAGGTALLPGPPAPSPLPATPLSAKEDASKEDVIFF*

Gene Symbol:ARHGEF18
Accession:XM_011527837
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_005272464
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_011527839
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_011527836
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_011527841
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_006722706
Location:INTRON

Gene Symbol:ARHGEF18
Accession:NM_001367823
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XR_007066705
Location:INTRON;NON-CODING

Gene Symbol:ARHGEF18
Accession:XR_007066706
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001208513 CLINVAR
  RCV002561688 CLINVAR
dbSNP (RS) rs368896153 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene ARHGEF18 CLINVAR
OMIM 616432 CLINVAR