RGD:405182478 Rat Genome Database

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Variant: RGD:405182478 -  Homo sapiens

RGD ID: 405182478
ClinVar ID: CV3159629
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANKZF1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 220,096,749
GRCh38 2 219,232,027
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282792.2:c.-266-463A>C
NM_001042410.2:c.248A>C
NM_018089.3:c.248A>C
NC_000002.12:g.219232027A>C
More... 		11/16/2023 intron variant uncertain significance none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003858880 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ANKZF1 CLINVAR
OMIM 617541 CLINVAR