RGD:12841079 Rat Genome Database

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Variant: RGD:12841079 -  Homo sapiens

RGD ID: 12841079
RS ID: rs77494117
ClinVar ID: CV367218
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN10A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 38,752,407
GRCh38 3 38,710,916
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.88095C>T
NC_000003.12:g.38710916G>A
NC_000003.11:g.38752407G>A
NM_006514.2:c.4090-19C>T
More... 		10/18/2016 intron variant 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_011533994
Location:INTRON

Gene Symbol:SCN10A
Accession:XM_011533993
Location:INTRON

Gene Symbol:SCN10A
Accession:XM_005265371
Location:INTRON

Gene Symbol:SCN10A
Accession:NM_001293306
Location:INTRON

Gene Symbol:SCN10A
Accession:NM_001293307
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000431938 CLINVAR
  RCV002059650 CLINVAR
dbSNP (RS) rs77494117 CLINVAR
MedGen C1142166 CLINVAR
  CN169374 CLINVAR
NCBI Gene SCN10A CLINVAR
OMIM 601144 CLINVAR
  604427 CLINVAR
SNOMED CT 418818005 CLINVAR