RGD:13804773 Rat Genome Database

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Variant: RGD:13804773 -  Homo sapiens

RGD ID: 13804773
RS ID: rs774108521
ClinVar ID: CV568540
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTAN1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 131,371,566
GRCh38 9 128,609,287
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.128609287A>C
NG_027748.1:g.61730A>C
NM_003127.4:c.4758+3A>C
NC_000009.11:g.131371566A>C
More...
02/16/2018 intron variant uncertain significance Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPTAN1
Accession:NM_001130438
Location:INTRON

Gene Symbol:SPTAN1
Accession:NM_003127
Location:INTRON

Gene Symbol:SPTAN1
Accession:NM_001195532
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_006717251
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_017015060
Location:INTRON

Gene Symbol:SPTAN1
Accession:NM_001363759
Location:INTRON

Gene Symbol:SPTAN1
Accession:NM_001363765
Location:INTRON

Gene Symbol:SPTAN1
Accession:NM_001375318
Location:INTRON

Gene Symbol:SPTAN1
Accession:NM_001375312
Location:INTRON

Gene Symbol:SPTAN1
Accession:NM_001375311
Location:INTRON

Gene Symbol:SPTAN1
Accession:NM_001375314
Location:INTRON

Gene Symbol:SPTAN1
Accession:NM_001375310
Location:INTRON

Gene Symbol:SPTAN1
Accession:NM_001375313
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423783
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423787
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423790
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423784
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423789
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423791
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423786
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423794
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423788
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423796
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423797
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423785
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423795
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423798
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423793
Location:INTRON

Gene Symbol:SPTAN1
Accession:XM_047423799
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000685390 CLINVAR
dbSNP (RS) rs774108521 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene SPTAN1 CLINVAR
OMIM 182810 CLINVAR
SNOMED CT 230429005 CLINVAR