rs1330596542 Rat Genome Database

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Variant: rs1330596542 -  Homo sapiens

RGD ID: 21070592
RS ID: rs1330596542
ClinVar ID: CV789938
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJC2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 228,345,676
GRCh38 1 228,157,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NP_065168.2:p.Pro73Thr
NM_020435.4:c.217C>A
NG_011838.1:g.13124C>A
NC_000001.11:g.228157975C>A
More... 		08/02/2022 missense variant likely pathogenic|uncertain significance PELIZAEUS-MERZBACHER-LIKE DISEASE, 1
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV789938Humanhypomyelinating leukodystrophy 2  IAGP 8554872ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2ClinVarPMID:25741868 and PMID:28492532
CV789938Humanparaplegia  IAGP 8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:25741868 and PMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV789938HumanSpastic paraplegia  IAGP 8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:25741868 and PMID:28492532
Gene Symbol:GJC2
Accession:NM_020435
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDAFATLSHVRFW
VFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETG
AAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVR
PFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRGRRGPPASAPAPAPRPPPCAF
PAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSA
GTVGEQGRPGTHERPGAKPRAGSEKGSASSRDGKTTVWI*
.
PMID:25741868   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV000986561 CLINVAR
  RCV002549670 CLINVAR
dbSNP (RS) rs1330596542 CLINVAR
MedGen C0037772 CLINVAR
  C1837355 CLINVAR
NCBI Gene GJC2 CLINVAR
OMIM 608803 CLINVAR
  608804 CLINVAR