RGD:401757721 Rat Genome Database

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Variant: RGD:401757721 -  Homo sapiens

RGD ID: 401757721
ClinVar ID: CV2707929
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127895563  MIF  MIF-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 24,236,992
GRCh38 22 23,894,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002415.2:c.142A>G
NG_145155.1:g.40A>G
NG_012099.1:g.5428A>G
NG_145154.1:g.848A>G
More...
04/18/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MIF
Accession:NM_002415
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPMFIVNTNVPRASVPDGFLSELTQQLAQATGKPPQYIAVHVVPDQLVAFGGSSEPCALCSLHSIGKIGGAQNRSYSKLL
CGLLAERLRISPDRVYINYYDMNAANVGWNNSTFA*

Gene Symbol:MIF-AS1
Accession:NR_038911
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004309194 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MIF CLINVAR
  MIF-AS1 CLINVAR
OMIM 153620 CLINVAR