RGD:405220448 Rat Genome Database

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Variant: RGD:405220448 -  Homo sapiens

RGD ID: 405220448
ClinVar ID: CV3059889
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AK1  ST6GALNAC4-ST6GALNAC6-AK1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,635,296
GRCh38 9 127,873,017
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1187t1:c.43+9C>T
NM_000476.3:c.43+9C>T
NM_001318121.1:c.43+9C>T
NM_001318122.2:c.91+9C>T
More... 		04/28/2023 intron variant likely benign none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003733227 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AK1 CLINVAR
  ST6GALNAC4-ST6GALNAC6-AK1 CLINVAR
OMIM 103000 CLINVAR