RGD:15177686 Rat Genome Database

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Variant: RGD:15177686 -  Homo sapiens

RGD ID: 15177686
RS ID: rs1295553913
ClinVar ID: CV766553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDRG1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 134,256,619
GRCh38 8 133,244,376
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001245361.1:p.Gly224=
NP_001361776.1:p.Gly224=
NP_001128714.1:p.Gly290=
NP_001361774.1:p.Gly290=
More... 		09/14/2018 synonymous variant likely benign Charcot-Marie-Tooth, Type 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NDRG1
Accession:NM_001258432
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNHKTCYNPLFNYEDMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYIL
TRFALNNPEMVEGLVLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHL
FINAYNSRRDLEIERPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFK
YFVQGMGYMPSASMTRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAG
PKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_001258433
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGLV
LINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIER
PMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASMT
RLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_001374846
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE
DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL
VLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIE
RPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASM
TRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_006096
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE
DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL
VLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIE
RPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASM
TRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_001135242
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE
DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL
VLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIE
RPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASM
TRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_001374847
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNHKTCYNPLFNYEDMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYIL
TRFALNNPEMVEGLVLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHL
FINAYNSRRDLEIERPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFK
YFVQGMGYMPSASMTRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAG
PKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_001374845
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE
DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL
VLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIE
RPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAEAFKYFVQGMGYMPSASM
TRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC*

Gene Symbol:NDRG1
Accession:NM_001374844
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 307
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCGTPKGNRPVILTYHDIGMNHKTCYNPLFNYE
DMQEITQHFAVCHVDAPGQQDGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFALNNPEMVEGL
VLINVNPCAEGWMDWAASKVRWGPVRPAGSLQEEGQISGWTQALPDMVVSHLFGKEEMQSNVEVVHTYRQHIVNDMNPGN
LHLFINAYNSRRDLEIERPMPGTHTVTLQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAKLAE
AFKYFVQGMGYMPSASMTRLMRSRTASGSSVTSLDGTRSRSHTSEGTRSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGN
SAGPKSMEVSC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001402447 CLINVAR
dbSNP (RS) rs1295553913 CLINVAR
MedGen C4082197 CLINVAR
NCBI Gene NDRG1 CLINVAR
OMIM 605262 CLINVAR
SNOMED CT 715795005 CLINVAR