RGD:597754902 Rat Genome Database

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Variant: RGD:597754902 -  Homo sapiens

RGD ID: 597754902
ClinVar ID: CV3606338
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A30  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 45,983,158
GRCh38 13 45,409,023
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001286807.2:c.-14+2339C>A
NM_001286806.2:c.-38C>A
NM_001010875.4:c.116C>A
NC_000013.11:g.45409023G>T
More... 		11/10/2024 5 prime utr variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004867971 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SLC25A30 CLINVAR
OMIM 610793 CLINVAR