RGD:13803905 Rat Genome Database

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Variant: RGD:13803905 -  Homo sapiens

RGD ID: 13803905
RS ID: rs1049312344
ClinVar ID: CV573518
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLP1  RAB9B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 103,040,541
GRCh38 X 103,785,612
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_199478.3:c.35T>C
NG_016452.2:g.51671A>G
NP_955772.1:p.Val12Ala
NM_000533.4:c.35T>C
More... 		02/19/2018 intron variant uncertain significance SPASTIC PARAPLEGIA 2, X-LINKED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLP1
Accession:NM_001128834
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLECCARCLAGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFF
LYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALT
VVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLF
IAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF*

Gene Symbol:PLP1
Accession:NM_199478
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLECCARCLAGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFF
LYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATFVGITYALTVVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSA
SIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGT
KF*

Gene Symbol:PLP1
Accession:NM_000533
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLECCARCLAGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFF
LYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALT
VVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLF
IAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF*

Gene Symbol:RAB9B
Accession:NM_016370
Location:INTRON

Gene Symbol:PLP1
Accession:NM_001305004
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000699424 CLINVAR
dbSNP (RS) rs1049312344 CLINVAR
MedGen C1839264 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312920 CLINVAR