RGD:597646898 Rat Genome Database

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Variant: RGD:597646898 -  Homo sapiens

RGD ID: 597646898
ClinVar ID: CV3693993
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAFA  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 144,511,925
GRCh38 8 143,429,755
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_201589.4:c.652G>C
NC_000008.11:g.143429755C>G
NC_000008.10:g.144511925C>G
NM_201589.3:c.652G>C
More... 		12/09/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004942557 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MAFA CLINVAR
OMIM 610303 CLINVAR