RGD:13517551 Rat Genome Database

Variant: RGD:13517551 - Homo sapiens

RGD ID:

13517551

RS ID:

rs1556269487

ClinVar ID:

CV488162

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PLP1 RAB9B

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	103,042,890
GRCh38	X	103,787,961

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_008863.2:g.16451T>G NC_000023.10:g.103042890T>G NM_001128834.1:c.617T>G NG_016452.2:g.49322A>C More...	11/21/2016	missense variant	likely pathogenic	LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Pelizeaus-Merzbacher spectrum disorder; Sudanophilic leukodystrophy

Disease Annotations Click to see Annotation Detail View

Pelizaeus-Merzbacher disease (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Sudanophilic leukodystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PLP1
Accession:	NM_001305004
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	151

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDYEYLINVIHAFQYVIYGTASFFFLYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSL ERVCHCLGKWLGHPDKFVGITYALTVVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARRYGVLPWNAF PGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF*

Gene Symbol:	PLP1
Accession:	NM_000533
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFF LYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALT VVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARRYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLF IAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF*

Gene Symbol:	PLP1
Accession:	NM_199478
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	171

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFF LYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATFVGITYALTVVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSA SIGSLCADARRYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGT KF*

Gene Symbol:	PLP1
Accession:	NM_001128834
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFF LYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALT VVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARRYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLF IAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF*

Gene Symbol:	RAB9B
Accession:	NM_016370
Location:	INTRON

Gene Symbol:	RAB9B
Accession:	NR_146558
Location:	INTRON;NON-CODING

Gene Symbol:	RAB9B
Accession:	NR_146560
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000590967	CLINVAR
dbSNP (RS)	rs1556269487	CLINVAR
MedGen	C0205711	CLINVAR
NCBI Gene	PLP1	CLINVAR
	RAB9B	CLINVAR
OMIM	300285	CLINVAR
	300401	CLINVAR
	312080	CLINVAR
SNOMED CT	64855000	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)

Variant: RGD:13517551 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13517551 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar