RGD:12844213 Rat Genome Database

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Variant: RGD:12844213 -  Homo sapiens

RGD ID: 12844213
RS ID: rs138063699
ClinVar ID: CV367546
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN10A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 38,791,551
GRCh38 3 38,750,060
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031891.2:g.48951C>T
NC_000003.12:g.38750060G>A
NC_000003.11:g.38791551G>A
NM_006514.2:c.1867+13C>T
More... 		09/15/2021 intron variant benign|likely benign AllHighlyPenetrant; Sudden unexpected nocturnal death syndrome; Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCN10A
Accession:NM_006514
Location:INTRON

Gene Symbol:SCN10A
Accession:XM_011533993
Location:INTRON

Gene Symbol:SCN10A
Accession:NM_001293307
Location:INTRON

Gene Symbol:SCN10A
Accession:XM_005265371
Location:INTRON

Gene Symbol:SCN10A
Accession:XM_011533994
Location:INTRON

Gene Symbol:SCN10A
Accession:NM_001293306
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000437598 CLINVAR
  RCV002060004 CLINVAR
dbSNP (RS) rs138063699 CLINVAR
MedGen C1142166 CLINVAR
  CN169374 CLINVAR
NCBI Gene SCN10A CLINVAR
OMIM 601144 CLINVAR
  604427 CLINVAR
SNOMED CT 418818005 CLINVAR