RGD:329395308 Rat Genome Database

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Variant: RGD:329395308 -  Homo sapiens

RGD ID: 329395308
ClinVar ID: CV2458199
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFNA21  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 21,166,548
GRCh38 9 21,166,549
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_002175.2:c.64C>A
NG_030029.1:g.5112C>A
NC_000009.12:g.21166549G>T
NC_000009.11:g.21166548G>T
More... 		02/01/2023 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:IFNA21
Accession:NM_002175
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSFSLLMAVLVLSYKSICSMGCDLPQTHSLGNRRALILLAQMGRISPFSCLKDRHDFGFPQEEFDGNQFQKAQAISVL
HEMIQQTFNLFSTKDSSATWEQSLLEKFSTELNQQLNDLEACVIQEVGVEETPLMNVDSILAVKKYFQRITLYLTEKKYS
PCAWEVVRAEIMRSFSLSKIFQERLRRKE*
.


Database
Acc Id
Source(s)
ClinVar RCV004265865 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene IFNA21 CLINVAR
OMIM 147584 CLINVAR