RGD:407514303 Rat Genome Database

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Variant: RGD:407514303 -  Homo sapiens

RGD ID: 407514303
ClinVar ID: CV3440151
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCFC2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 104,481,805
GRCh38 12 104,088,027
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_013320.3:c.1273G>A
NC_000012.12:g.104088027G>A
NC_000012.11:g.104481805G>A
NM_013320.2:c.1273G>A
More...
03/20/2024 missense variant likely benign AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004627543 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HCFC2 CLINVAR
OMIM 607926 CLINVAR