RGD:155932718 Rat Genome Database

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Variant: RGD:155932718 -  Homo sapiens

RGD ID: 155932718
ClinVar ID: CV2290835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDX1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 15,770,924
GRCh38 2 15,630,800
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.11:g.15770924A>C
NM_004939.1:c.2117A>C
NM_004939.3:c.2117A>C
NC_000002.12:g.15630800A>C
More... 		08/08/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DDX1
Accession:NM_004939
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 706
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAFSEMGVMPEIAQAVEEMDWLLPTDIQAESIPLILGGGDVLMAAETGSGKTGAFSIPVIQIVYETLKDQQEGKKGKTT
IKTGASVLNKWQMNPYDRGSAFAIGSDGLCCQSREVKEWHGCRATKGLMKGKHYYEVSCHDQGLCRVGWSTMQASLDLGT
DKFGFGFGGTGKKSHNKQFDNYGEEFTMHDTIGCYLDIDKGHVKFSKNGKDLGLAFEIPPHMKNQALFPACVLKNAELKF
NFGEEEFKFPPKDGFVALSKAPDGYIVKSQHSGNAQVTQTKFLPNAPKALIVEPSRELAEQTLNNIKQFKKYIDNPKLRE
LLIIGGVAARDQLSVLENGVDIVVGTPGRLDDLVSTGKLNLSQVRFLVLDEADGLLSQGYSDFINRMHNQIPQVTSDGKR
LQVIVCSATLHSFDVKKLSEKIMHFPTWVDLKGEDSVPDTVHHVVVPVNPKTDRLWERLGKSHIRTDDVHAKDNTRPGAN
SPEMWSEAIKILKGEYAVRAIKEHKMDQAIIFCRTKIDCDNLEQYFIQQGGGPDKKGHQFSCVCLHGDRKPHERKQNLER
FKKGDVRFLICTDVAARGIDIHGVPYVINVTLPDEKQNYVHRIGRVGRAERMGLAISLVATEKEKVWYHVCSSRGKGCYN
TRLKEDGGCTIWYNEMQLLSEIEEHLNCTISQVEPDIKVPVDEFDGKVTYGQKRAAGGGSYKGHVAILAPTVQELAALEK
EAQTSFLHLGYLPNQLFRTF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004149330 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DDX1 CLINVAR
OMIM 601257 CLINVAR