RGD:13489607 Rat Genome Database

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Variant: RGD:13489607 -  Homo sapiens

RGD ID: 13489607
RS ID: rs141408756
ClinVar ID: CV466961
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C17orf107  CHRNE  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 4,802,883
GRCh38 17 4,899,588
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008029.2:g.8488C>G
NC_000017.11:g.4899588G>C
NC_000017.10:g.4802883G>C
LRG_1254:g.8488C>G
More... 		07/01/2022 5 prime utr variant|intron variant benign|likely benign CONGENITAL MYASTHENIC SYNDROME TYPE Ia1; Myasthenic syndrome, congenital, 4a, slow-channel; MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, AUTOSOMAL RECESSIVE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C17orf107
Accession:NM_001145536
Location:5UTRS;EXON

Gene Symbol:C17orf107
Accession:XR_007065254
Location:EXON;NON-CODING

Gene Symbol:C17orf107
Accession:XR_007065253
Location:EXON;NON-CODING

Gene Symbol:CHRNE
Accession:NM_000080
Location:INTRON

Gene Symbol:CHRNE
Accession:XM_017024115
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000555434 CLINVAR
  RCV001126037 CLINVAR
  RCV001731761 CLINVAR
dbSNP (RS) rs141408756 CLINVAR
MedGen C0751882 CLINVAR
  C3661900 CLINVAR
  C4225413 CLINVAR
NCBI Gene C17orf107 CLINVAR
  CHRNE CLINVAR
OMIM 100725 CLINVAR
  605809 CLINVAR