RGD:28906711 Rat Genome Database

Variant: RGD:28906711 - Homo sapiens

RGD ID:

28906711

RS ID:

rs138285479

ClinVar ID:

CV899011

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NDRG1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	134,262,747
GRCh38	8	133,250,504

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001374845.1:c.634C>T NM_001374846.1:c.634C>T NM_006096.4:c.634C>T NM_001374844.1:c.685C>T More...	08/05/2021	missense variant	uncertain significance	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4D; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth Neuropathy Type 4D; Charcot-Marie-Tooth, Type 4; Neuropathy, hereditary motor and sensory, LOM type; none provided

Disease Annotations Click to see Annotation Detail View

Charcot-Marie-Tooth disease (IAGP)

Charcot-Marie-Tooth disease type 4 (IAGP)

Charcot-Marie-Tooth disease type 4D (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	NDRG1
Accession:	NM_001258433
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGLV LINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYCQHIVNDMNPGNLHLFINAYNSRRDLEIER PMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASMT RLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:	NDRG1
Accession:	NM_001374844
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	229

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL VLINVNPCAEGWMDWAASKVRWGPVRPAGSLQEEGQISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYCQHIVNDMNPGN LHLFINAYNSRRDLEIERPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAE AFKYFVQGMGYMPSASMTRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGN SAGPKSMEVSC*

Gene Symbol:	NDRG1
Accession:	NM_001135242
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL VLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYCQHIVNDMNPGNLHLFINAYNSRRDLEIE RPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASM TRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:	NDRG1
Accession:	NM_001374845
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL VLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYCQHIVNDMNPGNLHLFINAYNSRRDLEIE RPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASM TRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:	NDRG1
Accession:	NM_006096
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL VLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYCQHIVNDMNPGNLHLFINAYNSRRDLEIE RPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASM TRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:	NDRG1
Accession:	NM_001258432
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	146

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNHKTCYNPLFNYEDMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYIL TRFALNNPEMVEGLVLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYCQHIVNDMNPGNLHL FINAYNSRRDLEIERPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFK YFVQGMGYMPSASMTRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAG PKSMEVSC*

Gene Symbol:	NDRG1
Accession:	NM_001374847
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	146

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNHKTCYNPLFNYEDMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYIL TRFALNNPEMVEGLVLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYCQHIVNDMNPGNLHL FINAYNSRRDLEIERPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFK YFVQGMGYMPSASMTRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAG PKSMEVSC*

Gene Symbol:	NDRG1
Accession:	NM_001374846
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL VLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYCQHIVNDMNPGNLHLFINAYNSRRDLEIE RPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASM TRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001159105	CLINVAR
	RCV001173717	CLINVAR
	RCV001246999	CLINVAR
	RCV001655688	CLINVAR
dbSNP (RS)	rs138285479	CLINVAR
MedGen	C0007959	CLINVAR
	C1832334	CLINVAR
	C3661900	CLINVAR
	C4082197	CLINVAR
NCBI Gene	NDRG1	CLINVAR
OMIM	601455	CLINVAR
	605262	CLINVAR
SNOMED CT	50548001	CLINVAR
	715795005	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:28906711 - Homo sapiens

Imported Disease Annotations - ClinVar