RGD:155917271 Rat Genome Database

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Variant: RGD:155917271 -  Homo sapiens

RGD ID: 155917271
ClinVar ID: CV2336303
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MDP1  NEDD8-MDP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 24,685,130
GRCh38 14 24,215,924
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199823.3:c.150-262A>G
NM_001199821.2:c.32A>G
NM_001199822.2:c.32A>G
NM_138476.4:c.32A>G
More... 		12/07/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MDP1
Accession:NM_001199822
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLPKLAVFALDYTLWPFWVDTHVDPPFHKSSDGTVRDRRGQDVRLYPEVPEVLKRLQSLGVPGAAASRTSEIEGANQL
LELFDLFRYFVHREIYPGSKITHFERLQQKTGIPFSQMIFFDDERRNIVDVSKLGTE*

Gene Symbol:MDP1
Accession:NM_001199821
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLPKLAVFALDYTLWPFWVDTHVDPPFHKSSDGTVRDRRGQDVRLYPEVPEVLKRLQSLGVPGAAASRTSEIEGANQL
LELFDLFRCYLHSHPEWNESSNSKSRVRDICEGPNWAFEVQP*

Gene Symbol:MDP1
Accession:NM_138476
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLPKLAVFALDYTLWPFWVDTHVDPPFHKSSDGTVRDRRGQDVRLYPEVPEVLKRLQSLGVPGAAASRTSEIEGANQL
LELFDLFRYFVHREIYPGSKITHFERLQQKTGIPFSQMIFFDDERRNIVDVSKLGVTCIHIQNGMNLQTLSQGLETFAKA
QTGPLRSSLEESPFEA*

Gene Symbol:NEDD8-MDP1
Accession:NM_001199823
Location:INTRON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004192052 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MDP1 CLINVAR
  NEDD8-MDP1 CLINVAR