RGD:25316747 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:25316747 -  Homo sapiens

RGD ID: 25316747
RS ID: rs1586806110
ClinVar ID: CV804741
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDAP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 75,275,196
GRCh38 8 74,362,961
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001362932.2:c.275A>G
NG_008787.3:g.46832A>G
NM_018972.4:c.602A>G
NC_000008.11:g.74362961A>G
More... 		missense variant uncertain significance Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GDAP1
Accession:NM_001362931
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL
IHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRI
RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDSVKYLKKILDELEKVLDQVETELQRRNEETPASHMQHTGG
RTAHLVPKTTVDLAELAALTVYQ*

Gene Symbol:GDAP1
Accession:NM_001362930
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL
IHGENIICEATQIIDYLEQTFLDGQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDSVKYLKKILDELEKVLDQ
VETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNN
ILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:GDAP1
Accession:XM_047421902
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ
KRLKSKLLDHDSVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG
NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL
AFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_018972
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL
IHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRI
RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDSVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLC
GESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVL
GTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_001362932
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ
KRLKSKLLDHDSVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG
NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL
AFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_001040875
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTV
DSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDSVKYLKKILDELEKVLDQVETELQRRNE
ETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTA
FRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:GDAP1
Accession:NM_001362929
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ
KRLKSKLLDHDSVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG
NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL
AFRPRPNYF*

Gene Symbol:GDAP1
Accession:XM_017013586
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001007465 CLINVAR
dbSNP (RS) rs1586806110 CLINVAR
MedGen C1842983 CLINVAR
NCBI Gene GDAP1 CLINVAR
OMIM 606598 CLINVAR
  607831 CLINVAR