RGD:11523111 Rat Genome Database

Variant: RGD:11523111 - Homo sapiens

RGD ID:

11523111

RS ID:

rs770501034

ClinVar ID:

CV244526

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GDAP1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	75,276,294
GRCh38	8	74,364,059

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
NG_008787.3:g.47930C>T NC_000008.11:g.74364059C>T NC_000008.10:g.75276294C>T NP_061845.2:p.Arg257Ter More...	09/09/2023	intron variant\|non-coding transcript variant\|nonsense	pathogenic\|likely pathogenic\|uncertain significance	Charcot-Marie-Tooth disease, demyelinating, autosomal recessive; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth Neuropathy Type 4A; CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A; none provided

Disease Annotations Click to see Annotation Detail View

Charcot-Marie-Tooth disease (IAGP)

Charcot-Marie-Tooth disease recessive intermediate A (IAGP)

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

Variant Details

Variant Transcripts

Gene Symbol:	GDAP1
Accession:	NM_001362932
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	148

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

Gene Symbol:	GDAP1
Accession:	XM_047421902
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	148

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

Gene Symbol:	GDAP1
Accession:	NM_018972
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	257

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL IHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRI RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLC GESFTLADVSLAVTLHLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVL GTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF

Gene Symbol:	GDAP1
Accession:	NM_001362930
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	199

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL IHGENIICEATQIIDYLEQTFLDGQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQ VETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNN ILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF

Gene Symbol:	GDAP1
Accession:	NM_001040875
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	189

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTV DSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNE ETPEEGQQPWLCGESFTLADVSLAVTLHLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTA FRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF

Gene Symbol:	GDAP1
Accession:	NM_001362929
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	148

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

Gene Symbol:	GDAP1
Accession:	NM_001362931
Location:	INTRON

Gene Symbol:	GDAP1
Accession:	XM_017013586
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:12499475	PMID:21322820	PMID:25614874	PMID:25741868	PMID:28492532	PMID:29858556	PMID:31069529

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000235362	CLINVAR
	RCV000664207	CLINVAR
	RCV000789164	CLINVAR
	RCV001206561	CLINVAR
dbSNP (RS)	rs770501034	CLINVAR
MedGen	C0007959	CLINVAR
	C1842197	CLINVAR
	C1859198	CLINVAR
	C3661900	CLINVAR
NCBI Gene	GDAP1	CLINVAR
OMIM	214400	CLINVAR
	606598	CLINVAR
	608340	CLINVAR
SNOMED CT	50548001	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:11523111 - Homo sapiens

Imported Disease Annotations - ClinVar