RGD:13625871 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:13625871 -  Homo sapiens

RGD ID: 13625871
RS ID: rs1287073036
ClinVar ID: CV523286
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126860531  NDRG1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 134,260,125
GRCh38 8 133,247,882
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_258t1:c.800A>G
LRG_258:g.54374A>G
NG_007943.1:g.54374A>G
NC_000008.11:g.133247882T>C
More... 		11/15/2017 missense variant uncertain significance Charcot-Marie-Tooth, Type 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NDRG1
Accession:NM_001135242
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE
DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL
VLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIE
RPMPGTHTVTLQCPALLVVGDSSPAVGAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASM
TRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_001258433
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGLV
LINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIER
PMPGTHTVTLQCPALLVVGDSSPAVGAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASMT
RLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_001374844
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE
DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL
VLINVNPCAEGWMDWAASKVRWGPVRPAGSLQEEGQISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGN
LHLFINAYNSRRDLEIERPMPGTHTVTLQCPALLVVGDSSPAVGAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAE
AFKYFVQGMGYMPSASMTRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGN
SAGPKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_001374847
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNHKTCYNPLFNYEDMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYIL
TRFALNNPEMVEGLVLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHL
FINAYNSRRDLEIERPMPGTHTVTLQCPALLVVGDSSPAVGAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFK
YFVQGMGYMPSASMTRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAG
PKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_001374845
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE
DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL
VLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIE
RPMPGTHTVTLQCPALLVVGDSSPAVGAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASM
TRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_006096
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE
DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL
VLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIE
RPMPGTHTVTLQCPALLVVGDSSPAVGAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASM
TRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_001374846
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE
DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL
VLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIE
RPMPGTHTVTLQCPALLVVGDSSPAVGAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASM
TRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_001258432
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNHKTCYNPLFNYEDMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYIL
TRFALNNPEMVEGLVLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHL
FINAYNSRRDLEIERPMPGTHTVTLQCPALLVVGDSSPAVGAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFK
YFVQGMGYMPSASMTRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAG
PKSMEVSC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000654073 CLINVAR
dbSNP (RS) rs1287073036 CLINVAR
MedGen C4082197 CLINVAR
NCBI Gene LOC126860531 CLINVAR
  NDRG1 CLINVAR
OMIM 605262 CLINVAR
SNOMED CT 715795005 CLINVAR