RGD:12895655 Rat Genome Database

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Variant: RGD:12895655 -  Homo sapiens

RGD ID: 12895655
RS ID: rs764674154
ClinVar ID: CV408740
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: IRAK3  
Reference Nucleotide: -
Variant Nucleotide: TGA
Position
Assembly Chr Position
GRCh37 12 66,638,945
GRCh38 12 66,245,165
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021194.1:g.60969_60970insTGA
NC_000012.12:g.66245166_66245167insTGA
NC_000012.11:g.66638946_66638947insTGA
NM_001142523.2:c.1035_1036insTGA
More...
01/24/2017 nonsense likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:IRAK3
Accession:NM_007199
Location:EXON
Amino Acid Prediction: K to M (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGNCGARGALSAHTLLFDLPPALLGELCAVLDSCDGALGWRGLAERLSSSWLDVRHIEKYVDQGKSGTRELLWSWAQKN
KTIGDLLQVLQEMGHRRAIHLITNYGAVLSPSEKSYQEGGFPNILFKETANVTVDNVLIPEHNEKGILLKSSISFQNIIE
GTRNFHKDFLIGEGEIFEVYRVEIQNLTYAVKLFKQEKKMQCKKHWKRFLSELEVLLLFHHPNILELAAYFTETEKFCLI
YPYMRNGTLFDRLQCVGDTAPLPWHIRIGILIGISKAIHYLHNVQPCSVICGSISSANILLDDQFQPKLTDFAMAHFRSH
LEHQSCTINMTSSSSKHLWYMPEEYIRQGKLSIKTDVYSFGIVIMEVLTGCRVVLDDPKHIQLRDLLRELMEKRGLDSCL
SFLDKMVPPCPRNFSAKLFCLAGRCAATRAKLRPSMDEVLNTLESTQASLYFAEDPPTSLKSFRCPSPLFLENVPSIPVE
DDESQNNNLLPSDEGLRIDRMTQKTPFECSQSEVMFLSLDKKPESKRNEEACNMPSSSCEESWFPKYIVPSQDLRPYKVN
IDPSSEAPGHSCRSRPVESSCSSKFSWDEYEQYKKE*

Gene Symbol:IRAK3
Accession:NM_001142523
Location:EXON
Amino Acid Prediction: K to M (nonsynonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGNCGARGALSAHTLLFDLPPALLGELCAVLDSCDGALGWRGLGAVLSPSEKSYQEGGFPNILFKETANVTVDNVLIPE
HNEKGILLKSSISFQNIIEGTRNFHKDFLIGEGEIFEVYRVEIQNLTYAVKLFKQEKKMQCKKHWKRFLSELEVLLLFHH
PNILELAAYFTETEKFCLIYPYMRNGTLFDRLQCVGDTAPLPWHIRIGILIGISKAIHYLHNVQPCSVICGSISSANILL
DDQFQPKLTDFAMAHFRSHLEHQSCTINMTSSSSKHLWYMPEEYIRQGKLSIKTDVYSFGIVIMEVLTGCRVVLDDPKHI
QLRDLLRELMEKRGLDSCLSFLDKMVPPCPRNFSAKLFCLAGRCAATRAKLRPSMDEVLNTLESTQASLYFAEDPPTSLK
SFRCPSPLFLENVPSIPVEDDESQNNNLLPSDEGLRIDRMTQKTPFECSQSEVMFLSLDKKPESKRNEEACNMPSSSCEE
SWFPKYIVPSQDLRPYKVNIDPSSEAPGHSCRSRPVESSCSSKFSWDEYEQYKKE*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000487255 CLINVAR
dbSNP (RS) rs764674154 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene IRAK3 CLINVAR
OMIM 604459 CLINVAR