RGD:13817928 Rat Genome Database

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Variant: RGD:13817928 -  Homo sapiens

RGD ID: 13817928
RS ID: rs782630676
ClinVar ID: CV564453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC37A4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 118,895,900
GRCh38 11 119,025,190
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164277.1:c.1123+1G>C
LRG_187t1:c.1123+1G>C
LRG_187:g.10716G>C
NG_013331.1:g.10716G>C
More...
02/02/2022 splice donor variant pathogenic|likely pathogenic Glycogen storage disease type 1B; GSD Ib
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC37A4
Accession:NM_001164279
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001467
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164278
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164277
Location:INTRON

Gene Symbol:SLC37A4
Accession:NM_001164280
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:9758626   PMID:10482875   PMID:10940311   PMID:11071391   PMID:15906092   PMID:16199547   PMID:16716283   PMID:17576681   PMID:25741868   PMID:25881301   PMID:28492532  
PMID:29549044   PMID:33977030  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000707348 CLINVAR
dbSNP (RS) rs782630676 CLINVAR
MedGen C0268146 CLINVAR
NCBI Gene SLC37A4 CLINVAR
OMIM 232220 CLINVAR
  602671 CLINVAR
SNOMED CT 30102006 CLINVAR