RGD:13477374 Rat Genome Database

RGD ID:

13477374

RS ID:

rs556827873

ClinVar ID:

CV459029

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	75,275,247
GRCh38	8	74,363,012

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001349858.1:p.Gln109Arg NP_001349861.1:p.Gln109Arg NP_001035808.1:p.Gln150Arg NC_000008.11:g.74363012A>G More...	09/17/2021	missense variant	likely pathogenic\|uncertain significance	Charcot-Marie-Tooth disease, demyelinating, autosomal recessive; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a; Charcot-Marie-Tooth Neuropathy Type 4A

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	GDAP1
Accession:	XM_047421902
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ KRLKSKLLDHDNVKYLKKILDELEKVLDRVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL AFRPRPNYF*

Gene Symbol:	GDAP1
Accession:	NM_001362930
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	160

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL IHGENIICEATQIIDYLEQTFLDGQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDR VETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNN ILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:	GDAP1
Accession:	NM_001362931
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	218

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL IHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRI RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDRVETELQRRNEETPASHMQHTGG RTAHLVPKTTVDLAELAALTVYQ*

Gene Symbol:	GDAP1
Accession:	NM_001362932
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ KRLKSKLLDHDNVKYLKKILDELEKVLDRVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL AFRPRPNYF*

Gene Symbol:	GDAP1
Accession:	NM_001362929
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ KRLKSKLLDHDNVKYLKKILDELEKVLDRVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL AFRPRPNYF*

Gene Symbol:	GDAP1
Accession:	NM_001040875
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	150

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTV DSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDRVETELQRRNE ETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTA FRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Gene Symbol:	GDAP1
Accession:	NM_018972
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	218

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL IHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRI RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDRVETELQRRNEETPEEGQQPWLC GESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVL GTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF*

Variant Samples

Additional References at PubMed

PMID:18231710	PMID:23628762	PMID:26525999	PMID:28492532	PMID:34169998

Additional Information

External Database Links

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)

Send us a Message