RGD:329357865 Rat Genome Database

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Variant: RGD:329357865 -  Homo sapiens

RGD ID: 329357865
ClinVar ID: CV2453702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENOM  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 31,503,406
GRCh38 22 31,107,420
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.10:g.31503406G>A
NM_080430.2:c.86C>T
NP_536355.1:p.Pro29Leu
NM_080430.4:c.86C>T
More... 		01/23/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SELENOM
Accession:NM_080430
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLLPPLALLLLLAALVAPATAATAYRLDWNRLSGLTRARVETCGG*QLNRLKEVKAFVTQDIPFYHNLVMKHLPGADP
ELVLLGRRYEELERIPLSEMTREEINALVQELGFYRKAAPDAQVPPEYVWAPAKPPEETSDHADL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004269346 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SELENOM CLINVAR
OMIM 610918 CLINVAR