RGD:401766486 Rat Genome Database

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Variant: RGD:401766486 -  Homo sapiens

RGD ID: 401766486
ClinVar ID: CV2725574
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129999735  MNX1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 156,802,528
GRCh38 7 157,009,834
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005515.4:c.517G>C
NG_179181.1:g.110C>G
NG_179182.1:g.50C>G
NG_013212.1:g.5820G>C
More... 		05/24/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MNX1
Accession:NM_005515
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKSKNFRIDALLAVDPPRAASAQSAPLALVTSLAAAASGTGGGGGGGGASGGTSGSCSPASSEPPAAPADRLRAESPSP
PRLLAAHCALLPKPGFLGAGGGGGGTGGGHGGPHHHAHPGAAAAAAAAAAAAAAGGLALGLHPGGAQGGAGLPAQAALYG
HPVYGYSAAAAAPALAGQHPALSYSYPQVQGAHPAHPADPIKLGAGTFQLDQWLRASTAGMILPKMPDFNSQAQSNLLGK
CRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVATSLMLTETQVKIWFQNRRMKWKRSKKAKEQAAQEAEKQKGGGGGA
GKGGAEEPGAEELLGPPAPGDKGSGRRLRDLRDSDPEEDEDEDDEDHFPYSNGASVHAASSDCSSEDDSPPPRPSHQPAP
Q*

Gene Symbol:MNX1
Accession:NM_001165255
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003282579 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene LOC129999735 CLINVAR
  MNX1 CLINVAR
OMIM 142994 CLINVAR