RGD:38459868 Rat Genome Database

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Variant: RGD:38459868 -  Homo sapiens

RGD ID: 38459868
RS ID: rs2074490307
ClinVar ID: CV919966
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLP1  RAB9B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 103,040,679
GRCh38 X 103,785,750
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128834.3:c.173A>G
NM_000533.3:c.173A>G
NC_000023.11:g.103785750A>G
NP_001291933.1:p.Tyr3Cys
More... 		04/04/2019 missense variant pathogenic LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Pelizeaus-Merzbacher spectrum disorder; Sudanophilic leukodystrophy
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PLP1
Accession:NM_001128834
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDCEYLINVIHAFQYVIYGTASFFF
LYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALT
VVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLF
IAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF*

Gene Symbol:PLP1
Accession:NM_001305004
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDCEYLINVIHAFQYVIYGTASFFFLYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSL
ERVCHCLGKWLGHPDKFVGITYALTVVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAF
PGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF*

Gene Symbol:PLP1
Accession:NM_199478
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDCEYLINVIHAFQYVIYGTASFFF
LYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATFVGITYALTVVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSA
SIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGT
KF*

Gene Symbol:PLP1
Accession:NM_000533
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDCEYLINVIHAFQYVIYGTASFFF
LYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALT
VVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLF
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
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001196160 CLINVAR
dbSNP (RS) rs2074490307 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR