RGD:12893553 Rat Genome Database

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Variant: RGD:12893553 -  Homo sapiens

RGD ID: 12893553
RS ID: rs1064796350
ClinVar ID: CV411083
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLP1  RAB9B  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 103,042,804
GRCh38 X 103,787,875
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008863.2:g.16365C>A
NC_000023.11:g.103787875C>A
NC_000023.10:g.103042804C>A
NP_000524.3:p.Tyr177Ter
More...
02/10/2017 nonsense likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:PLP1
Accession:NM_001128834
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFF
LYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALT
VVWLLVFACSAVPVYI*FNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLF
IAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF*

Gene Symbol:PLP1
Accession:NM_000533
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFF
LYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCHCLGKWLGHPDKFVGITYALT
VVWLLVFACSAVPVYI*FNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLF
IAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF*

Gene Symbol:PLP1
Accession:NM_199478
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQYVIYGTASFFF
LYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATFVGITYALTVVWLLVFACSAVPVYI*FNTWTTCQSIAFPSKTSA
SIGSLCADARMYGVLPWNAFPGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGT
KF*

Gene Symbol:PLP1
Accession:NM_001305004
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYEYLINVIHAFQYVIYGTASFFFLYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSL
ERVCHCLGKWLGHPDKFVGITYALTVVWLLVFACSAVPVYI*FNTWTTCQSIAFPSKTSASIGSLCADARMYGVLPWNAF
PGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF*

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 Information

Database Acc Id Source(s)
ClinVar RCV000479361 CLINVAR
dbSNP (RS) rs1064796350 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR