rs1375875748 Rat Genome Database

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Variant: rs1375875748 -  Homo sapiens

RGD ID: 28912129
RS ID: rs1375875748
ClinVar ID: CV858698
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 228,346,342
GRCh38 1 228,158,641
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_020435.4:c.883C>T
NG_011838.1:g.13790C>T
NC_000001.11:g.228158641C>T
NC_000001.10:g.228346342C>T
More... 		07/01/2019 nonsense likely pathogenic|uncertain significance PELIZAEUS-MERZBACHER-LIKE DISEASE, 1
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV858698Humanhypomyelinating leukodystrophy 2  IAGP 8554872ClinVar Annotator: match by term: Leukodystrophy more ...ClinVarPMID:25741868
Gene Symbol:GJC2
Accession:NM_020435
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDAFAPLSHVRFW
VFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETG
AAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVR
PFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSA*DAVRGRRGPPASAPAPAPRPPPCAF
PAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSA
GTVGEQGRPGTHERPGAKPRAGSEKGSASSRDGKTTVWI*
.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001090093 CLINVAR
dbSNP (RS) rs1375875748 CLINVAR
MedGen C1837355 CLINVAR
NCBI Gene GJC2 CLINVAR
OMIM 608803 CLINVAR
  608804 CLINVAR