RGD:156048164 Rat Genome Database

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Variant: RGD:156048164 -  Homo sapiens

RGD ID: 156048164
ClinVar ID: CV2315747
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFRD2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 50,325,914
GRCh38 3 50,288,483
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006764.5:c.1174A>G
NC_000003.12:g.50288483T>C
NC_000003.11:g.50325914T>C
NM_006764.4:c.1366A>G
More... 		11/17/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:IFRD2
Accession:NM_006764
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 392
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRARKGNTLRKGGQRRGGGARSSAQADSGSSDDEAASEARSTASECPSLLSTTAEDSLGGDVVDEQGQQEDLEEKLKEY
VDCLTDKSAKTRQGALESLRLALASRLLPDFLLERRLTLADALEKCLKKGKGEEQALAAAVLGLLCVQLGPGPKGEELFH
SLQPLLVSVLSDSTASPAARLHCASALGLGCYVAAADIQDLVSCLACLESVFSRFYGLGGSSTSPVVPASLHGLLSAALQ
AWALLLTICPSTQISHILDRQLPRLPQLLSSESVNLRIAAGETIALLFELARDLEEEFVYEDMEALCSVLRTLATDSNKY
RAKADRRRQRSTFRAVLHSVEGGECEEEIVRFGFEVLYMDSWARHRIYAAFKEVLGSGMHHHLQNNELLRDVFGLGPVLL
LDATALKACKVPRFEKHLYNAAAFKARTKARSRVRDKRADIL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004169756 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene IFRD2 CLINVAR
OMIM 602725 CLINVAR