RGD:126770192 Rat Genome Database

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Variant: RGD:126770192 -  Homo sapiens

RGD ID: 126770192
RS ID: rs761625814
ClinVar ID: CV1034520
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGEF18  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 7,505,190
GRCh38 19 7,440,304
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.-111C>T
NM_015318.4:c.-71-40C>T
NM_001130955.2:c.202C>T
NM_001367823.1:c.968-40C>T
More... 		07/15/2020 5 prime utr variant uncertain significance none provided

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

Gene Symbol:ARHGEF18
Accession:XM_047438528
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_047438527
Location:5UTRS;INTRON

Gene Symbol:ARHGEF18
Accession:NM_001130955
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNAHSKSGDRHSALPGRPELSFYGSFPRKWSENVFLDNELLTSKILSVLRPQSERGFRAGDLRYPTYFLSTNSVLASVT
ASLKEHPRGTLLSDGSPALSRNVGMTVSQKGGPQPTPSPAGPGTQLGPITGEMDEADSAFLKFKQTADDSLSLTSPNTES
IFVEDPYTASLRSEIESDGHEFEAESWSLAVDAAYAKKQKREVVKRQDVLYELMQTEVHHVRTLKIMLKVYSRALQEELQ
FSSKAIGRLFPCADDLLETHSHFLARLKERRQESLEEGSDRNYVIQKIGDLLVQQFSGENGERMKEKYGVFCSGHNEAVS
HYKLLLQQNKKFQNLIKKIGNFSIVRRLGVQECILLVTQRITKYPVLVERIIQNTEAGTEDYEDLTQALNLIKDIISQVD
AKVSECEKGQRLREIAGKMDLKSSSKLKNGLTFRKEDMLQRQLHLEGMLCWKTTSGRLKDILAILLTDVLLLLQEKDQKY
VFASVDSKPPVISLQKLIVREVANEEKAMFLISASLQGPEMYEIYTSSKEDRNAWMAHIQRAVESCPDEEEGPFSLPEEE
RKVVEARATRLRDFQERLSMKDQLIAQSLLEKQQIYLEMAEMGGLEDLPQPRGLFRGGDPSETLQGELILKSAMSEIEGI
QSLICRQLGSANGQAEDGGSSTGPPRRAETFAGYDCTNSPTKNGSFKKKVSSTDPRPRDWRGPPNSPDLKLSDSDIPGSS
EESPQVVEAPGTESDPRLPTVLESELVQRIQTLSQLLLNLQAVIAHQDSYVETQRAAIQEREKQFRLQSTRGNLLLEQER
QRNFEKQREERAALEKLQSQLRHEQQRWERERQWQHQELERAGARLQEREGEARQLRERLEQERAELERQRQAYQHDLER
LREAQRAVERERERLELLRRLKKQNTAPGALPPDTLAEAQPPSHPPSFNGEGLEGPRVSMLPSGVGPEYAERPEVARRDS
APTENRLAKSDVPIQLLSATNQFQRQAAVQQQIPTKLAASTKGGKDKGGKSRGSQRWESSASFDLKQQLLLNKLMGKDES
TSRNRRSLSPILPGRHSPAPPPDPGFPAPSPPPADSPSEGFSLKAGGTALLPGPPAPSPLPATPLSAKEDASKEDVIFF*

Gene Symbol:ARHGEF18
Accession:XM_011527841
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_006722706
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_011527837
Location:INTRON

Gene Symbol:ARHGEF18
Accession:NM_001367823
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_011527836
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_011527839
Location:INTRON

Gene Symbol:ARHGEF18
Accession:XM_005272464
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001344335 CLINVAR
dbSNP (RS) rs761625814 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ARHGEF18 CLINVAR
OMIM 616432 CLINVAR