RGD:405812240 Rat Genome Database

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Variant: RGD:405812240 -  Homo sapiens

RGD ID: 405812240
ClinVar ID: CV3352986
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MDP1  NEDD8-MDP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 24,683,542
GRCh38 14 24,214,336
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199821.2:c.264-185G>A
NM_001199822.2:c.377G>A
NM_138476.4:c.377G>A
NM_001199823.3:c.428G>A
More... 		12/15/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NEDD8-MDP1
Accession:NM_001199823
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLIKVKTLTGKEIEIDIEPTDKVERIKERVEEKEGIPPQQQRLIYSGKQIDGTVRDRRGQDVRLYPEVPEVLKRLQSLGV
PGAAASRTSEIEGANQLLELFDLFRYFVHREIYPGSKITHFERLQQKTGIPFSQMIFFDDERLNIVDVSKLGVTCIHIQN
GMNLQTLSQGLETFAKAQTGPLRSSLEESPFEA*

Gene Symbol:MDP1
Accession:NM_001199822
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLPKLAVFDLDYTLWPFWVDTHVDPPFHKSSDGTVRDRRGQDVRLYPEVPEVLKRLQSLGVPGAAASRTSEIEGANQL
LELFDLFRYFVHREIYPGSKITHFERLQQKTGIPFSQMIFFDDERLNIVDVSKLGTE*

Gene Symbol:MDP1
Accession:NM_138476
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLPKLAVFDLDYTLWPFWVDTHVDPPFHKSSDGTVRDRRGQDVRLYPEVPEVLKRLQSLGVPGAAASRTSEIEGANQL
LELFDLFRYFVHREIYPGSKITHFERLQQKTGIPFSQMIFFDDERLNIVDVSKLGVTCIHIQNGMNLQTLSQGLETFAKA
QTGPLRSSLEESPFEA*

Gene Symbol:NEDD8-MDP1
Accession:NR_137630
Location:EXON;NON-CODING

Gene Symbol:NEDD8-MDP1
Accession:NR_137631
Location:EXON;NON-CODING

Gene Symbol:NEDD8-MDP1
Accession:NR_137632
Location:EXON;NON-CODING

Gene Symbol:MDP1
Accession:NM_001199821
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004483186 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MDP1 CLINVAR
  NEDD8-MDP1 CLINVAR