RGD:405207559 Rat Genome Database

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Variant: RGD:405207559 -  Homo sapiens

RGD ID: 405207559
ClinVar ID: CV2870314
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MNX1  MNX1-AS2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 156,799,175
GRCh38 7 157,006,481
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.13:g.156799175G>C
NP_005506.3:p.Gln284Glu
NP_001158727.1:p.Gln72Glu
NM_001165255.2:c.214C>G
More... 		01/22/2024 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:MNX1
Accession:NM_001165255
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGLSTVGACPGILGAQQAQAQSNLLGKCRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVATSLMLTETQVKIWFQNR
RMKWKRSKKAKEQAAQEAEKQKGGGGGAGKGGAEEPGAEELLGPPAPGDKGSGRRLRDLRDSDPEEDEDEDDEDHFPYSN
GASVHAASSDCSSEDDSPPPRPSHQPAPQ*

Gene Symbol:MNX1
Accession:NM_005515
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKSKNFRIDALLAVDPPRAASAQSAPLALVTSLAAAASGTGGGGGGGGASGGTSGSCSPASSEPPAAPADRLRAESPSP
PRLLAAHCALLPKPGFLGAGGGGGGTGGGHGGPHHHAHPGAAAAAAAAAAAAAAGGLALGLHPGGAQGGAGLPAQAALYG
HPVYGYSAAAAAAALAGQHPALSYSYPQVQGAHPAHPADPIKLGAGTFQLDQWLRASTAGMILPKMPDFNSQAQSNLLGK
CRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVATSLMLTETQVKIWFQNRRMKWKRSKKAKEQAAQEAEKQKGGGGGA
GKGGAEEPGAEELLGPPAPGDKGSGRRLRDLRDSDPEEDEDEDDEDHFPYSNGASVHAASSDCSSEDDSPPPRPSHQPAP
Q*

Gene Symbol:MNX1-AS2
Accession:NR_147077
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003552138 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MNX1 CLINVAR
  MNX1-AS2 CLINVAR
OMIM 142994 CLINVAR