RGD:401780780 Rat Genome Database

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Variant: RGD:401780780 -  Homo sapiens

RGD ID: 401780780
ClinVar ID: CV2685717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DAB2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 39,388,465
GRCh38 5 39,388,363
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001244871.2:c.624+436T>A
NM_001343.4:c.629T>A
NG_030312.1:g.41871T>A
NC_000005.10:g.39388363A>T
More... 		04/26/2023 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DAB2
Accession:NM_001343
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNEVETSATNGQPDQQAAPKAPSKKEKKKGPEKTDEYLLARFKGDGVKYKAKLIGIDDVPDARGDKMSQDSMMKLKGMA
AAGRSQGQHKQRIWVNISLSGIKIIDEKTGVIEHEHPVNKISFIARDVTDNRAFGYVCGGEGQHQFFAIKTGQQAEPLVV
DLKDLFQVIYNVKKKEEEKKKIEEASKAVENGSEALMILDDQTNKLKSGDDQMDLFGDMSTPPDLNSPTESKDILLVDLN
SEIDTNQNSLRENPFLTNGITSCSLPRPTPQASFLPENAFSANLNFFPTPNPDPFRDDPFTQPDQSTPSSFDSLKSPDQK
KENSSSSSTPLSNGPLNGDVDYFGQQFDQISNRTGKQEAQAGPWPFSSSQTQPAVRTQNGVSEREQNGFSVKSSPNPFVG
SPPKGLSIQNGVKQDLESSVQSSPHDSIAIIPPPQSTKPGRGRRTAKSSANDLLASDIFAPPVSEPSGQASPTGQPTALQ
PNPLDLFKTSAPAPVGPLVGLGGVTVTLPQAGPWNTASLVFNQSPSMAPGAMMGGQPSGFSQPVIFGTSPAVSGWNQPSP
FAASTPPPVPVVWGPSASVAPNAWSTTSPLGNPFQSNIFPAPAVSTQPPSMHSSLLVTPPQPPPRAGPPKDISSDAFTAL
DPLGDKEIKDVKEMFKDFQLRQPPAVPARKGEQTSSGTLSAFASYFNSKVGIPQENADHDDFDANQLLNKINEPPKPAPR
QVSLPVTKSTDNAFENPFFKDSFGSSQASVASSQPVSSEMYRDPFGNPFA*

Gene Symbol:DAB2
Accession:NM_001244871
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003264985 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene DAB2 CLINVAR
OMIM 601236 CLINVAR