RGD:156345614 Rat Genome Database

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Variant: RGD:156345614 -  Homo sapiens

RGD ID: 156345614
ClinVar ID: CV2186311
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129999736  MNX1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 156,802,638
GRCh38 7 157,009,944
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.407G>C
NG_013212.1:g.5710G>C
NC_000007.14:g.157009944C>G
NC_000007.13:g.156802638C>G
More... 		04/28/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MNX1
Accession:NM_005515
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKSKNFRIDALLAVDPPRAASAQSAPLALVTSLAAAASGTGGGGGGGGASGGTSGSCSPASSEPPAAPADRLRAESPSP
PRLLAAHCALLPKPGFLGAGGGGGGTGGGHGGPHHHAHPGAAAAAAAAAAAAAAGALALGLHPGGAQGGAGLPAQAALYG
HPVYGYSAAAAAAALAGQHPALSYSYPQVQGAHPAHPADPIKLGAGTFQLDQWLRASTAGMILPKMPDFNSQAQSNLLGK
CRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVATSLMLTETQVKIWFQNRRMKWKRSKKAKEQAAQEAEKQKGGGGGA
GKGGAEEPGAEELLGPPAPGDKGSGRRLRDLRDSDPEEDEDEDDEDHFPYSNGASVHAASSDCSSEDDSPPPRPSHQPAP
Q*

Gene Symbol:MNX1
Accession:NM_001165255
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003047995 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC129999736 CLINVAR
  MNX1 CLINVAR
OMIM 142994 CLINVAR