RGD:329398878 Rat Genome Database

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Variant: RGD:329398878 -  Homo sapiens

RGD ID: 329398878
ClinVar ID: CV2471766
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTREX  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 54,683,803
GRCh38 5 55,387,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015360.5:c.2054C>G
NC_000005.10:g.55387975C>G
NC_000005.9:g.54683803C>G
NM_015360.4:c.2054C>G
More... 		03/06/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MTREX
Accession:NM_015360
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 685
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADAFGDELFSVFEGDSTTAAGTKKDKEKDKGKWKGPPGSADKAGKRFDGKLQSESTNNGKNKRDVDFEGTDEPIFGKKP
RIEESITEDLSLADLMPRVKVQSVETVEGCTHEVALPAEEDYLPLKPRVGKAAKEYPFILDAFQREAIQCVDNNQSVLVS
AHTSAGKTVCAEYAIALALREKQRVIFTSPIKALSNQKYREMYEEFQDVGLMTGDVTINPTASCLVMTTEILRSMLYRGS
EVMREVAWVIFDEIHYMRDSERGVVWEETIILLPDNVHYVFLSATIPNARQFAEWICHLHKQPCHVIYTDYRPTPLQHYI
FPAGGDGLHLVVDENGDFREDNFNTAMQVLRDAGDLAKGDQKGRKGGTKGPSNVFKIVKMIMERNFQPVIIFSFSKKDCE
AYALQMTKLDFNTDEEKKMVEEVFSNAIDCLSDEDKKLPQVEHVLPLLKRGIGIHHGGLLPILKETIEILFSEGLIKALF
ATETFAMGINMPARTVLFTNARKFDGKDFRWISSGEYIQMSGRAGRRGMDDRGIVILMVDEKMSPTIGKQLLKGSADPLN
SAFHLTYNMVLNLLRVEEINPEYMLEKSFYQFQHYRAIPGVVEKVKNSEEQYNKIVIPNEESVVIYYKIRQQLAKLGKEI
EEYIHKPKYCLPFLQPGRLVKVKNEGDDFGWGVVVNFSKKSNVKRNSGELDPLYVVEVLLRCSKESLKNSATEAAKPAKP
DEKGEMQVVPVLVHLLSAISSVRLYIPKDLRPVDNRQSVLKSIQEVQKRFPDGIPLLDPIDDMGIQDQGLKKVIQKVEAF
EHRMYSHPLHNDPNLETVYTLCEKKAQIAIDIKSAKRELKKARTVLQMDELKCRKRVLRRLGFATSSDVIEMKGRVACEI
SSADELLLTEMMFNGLFNDLSAEQATALLSCFVFQENSSEMPKLTEQLAGPLRQMQECAKRIAKVSAEAKLEIDEETYLS
SFKPHLMDVVYTWATGATFAHICKMTDVFEGSIIRCMRRLEELLRQMCQAAKAIGNTELENKFAEGITKIKRDIVFAASL
YL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004280810 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MTREX CLINVAR
OMIM 618122 CLINVAR