RGD:401725570 Rat Genome Database

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Variant: RGD:401725570 -  Homo sapiens

RGD ID: 401725570
ClinVar ID: CV2697466
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENPP4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 46,107,502
GRCh38 6 46,139,765
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.11:g.46107502A>G
NM_014936.5:c.182A>G
NM_014936.4:c.182A>G
NP_055751.1:p.His61Arg
More... 		05/17/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ENPP4
Accession:NM_014936
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLLVILLFSGLITGFRSDSSSSLPPKLLLVSFDGFRADYLKNYEFPHLQNFIKEGVLVERVKNVFITKTFPNHYSIVTG
LYEESHGIVANSMYDAVTKKHFSDSNDKDPFWWNEAVPIWVTNQLQENRSSAAAMWPGTDVPIHDTISSYFMNYNSSVSF
EERLNNITMWLNNSNPPVTFATLYWEEPDASGHKYGPEDKENMSRVLKKIDDLIGDLVQRLKMLGLWENLNVIITSDHGM
TQCSQDRLINLDSCIDHSYYTLIDLSPVAAILPKINRTEVYNKLKNCSPHMNVYLKEDIPNRFYYQHNDRIQPIILVADE
GWTIVLNESSQKLGDHGYDNSLPSMHPFLAAHGPAFHKGYKHSTINIVDIYPMMCHILGLKPHPNNGTFGHTKCLLVDQW
CINLPEAIAIVIGSLLVLTMLTCLIIIMQNRLSVPRPFSRLQLQEDDDDPLIG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004304211 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ENPP4 CLINVAR
OMIM 617000 CLINVAR