RGD:407469271 Rat Genome Database

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Variant: RGD:407469271 -  Homo sapiens

RGD ID: 407469271
ClinVar ID: CV3456915
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MARVELD3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 71,660,567
GRCh38 16 71,626,664
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001017967.2:c.435G>T
NP_001017967.2:p.Arg145Ser
NP_443090.4:p.Arg145Ser
NM_001271329.2:c.304+131G>T
More... 		06/13/2024 intron variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004636568 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MARVELD3 CLINVAR
OMIM 614094 CLINVAR