RGD:11654759 Rat Genome Database

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Variant: RGD:11654759 -  Homo sapiens

RGD ID: 11654759
RS ID: rs886051774
ClinVar ID: CV342202
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGFALS  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 1,840,499
GRCh38 16 1,790,498
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001146006.2:c.*102C>G
NM_004970.2:c.*102C>G
NR_027389.1:n.1974C>G
NG_011778.1:g.8236C>G
More... 		01/13/2018 3 prime utr variant uncertain significance infancy <1 / 1 000 000 Acid-labile subunit, deficiency of
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IGFALS
Accession:NM_001146006
Location:3UTRS;EXON

Gene Symbol:IGFALS
Accession:NM_004970
Location:3UTRS;EXON

Gene Symbol:IGFALS
Accession:NR_027389
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000320306 CLINVAR
dbSNP (RS) rs886051774 CLINVAR
MedGen C3900122 CLINVAR
NCBI Gene IGFALS CLINVAR
OMIM 601489 CLINVAR
  615961 CLINVAR