RGD:407487209 Rat Genome Database

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Variant: RGD:407487209 -  Homo sapiens

RGD ID: 407487209
ClinVar ID: CV3474046
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDUA  LOC127399732  SLC26A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 983,334
GRCh38 4 989,546
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1277t1:c.299+1597G>A
NM_022042.4:c.1393C>T
NM_213613.4:c.1393C>T
NM_000203.5:c.299+1597G>A
More... 		04/16/2024 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004672365 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene IDUA CLINVAR
  SLC26A1 CLINVAR
OMIM 252800 CLINVAR
  610130 CLINVAR