RGD:15100448 Rat Genome Database

Variant: RGD:15100448 - Homo sapiens

RGD ID:

15100448

RS ID:

rs765609133

ClinVar ID:

CV683019

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GDAP1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	75,276,591
GRCh38	8	74,364,356

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
NC_000008.10:g.75276591A>G NP_001035808.1:p.Asn288Asp NP_001349859.1:p.Asn298Asp NM_001040875.2:c.862A>G More...	08/14/2019	intron variant	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

Disease Annotations Click to see Annotation Detail View

Charcot-Marie-Tooth disease (IAGP)

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

Variant Details

Variant Transcripts

Gene Symbol:	GDAP1
Accession:	NM_001362929
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ KRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL AFRPRPDYF*

Gene Symbol:	GDAP1
Accession:	NM_001362930
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	298

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL IHGENIICEATQIIDYLEQTFLDGQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQ VETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNN ILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPDYF*

Gene Symbol:	GDAP1
Accession:	NM_018972
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	356

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTGEVPVL IHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRI RSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLC GESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVL GTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPDYF*

Gene Symbol:	GDAP1
Accession:	XM_047421902
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ KRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL AFRPRPDYF*

Gene Symbol:	GDAP1
Accession:	NM_001040875
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	288

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTV DSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNE ETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTA FRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPDYF*

Gene Symbol:	GDAP1
Accession:	NM_001362932
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQ KRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWG NGKRPNLETYYERVLKRKTFNKVLGHVNNILISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMIL AFRPRPDYF*

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:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000857211	CLINVAR
	RCV001069262	CLINVAR
dbSNP (RS)	rs765609133	CLINVAR
MedGen	C0007959	CLINVAR
	C1859198	CLINVAR
NCBI Gene	GDAP1	CLINVAR
OMIM	214400	CLINVAR
	606598	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:15100448 - Homo sapiens

Imported Disease Annotations - ClinVar