RGD:156313622 Rat Genome Database

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Variant: RGD:156313622 -  Homo sapiens

RGD ID: 156313622
ClinVar ID: CV2143889
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLL4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 41,229,049
GRCh38 15 40,936,851
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1268t1:c.1864C>G
NM_019074.4:c.1864C>G
LRG_1268:g.12519C>G
NG_046974.1:g.12519C>G
More... 		06/06/2023 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DLL4
Accession:NM_019074
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 622
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAASRSASGWALLLLVALWQQRAAGSGVFQLQLQEFINERGVLASGRPCEPGCRTFFRVCLKHFQAVVSPGPCTFGTVS
TPVLGTNSFAVRDDSSGGGRNPLQLPFNFTWPGTFSLIIEAWHAPGDDLRPEALPPDALISKIAIQGSLAVGQNWLLDEQ
TSTLTRLRYSYRVICSDNYYGDNCSRLCKKRNDHFGHYVCQPDGNLSCLPGWTGEYCQQPICLSGCHEQNGYCSKPAECL
CRPGWQGRLCNECIPHNGCRHGTCSTPWQCTCDEGWGGLFCDQDLNYCTHHSPCKNGATCSNSGQRSYTCTCRPGYTGVD
CELELSECDSNPCRNGGSCKDQEDGYHCLCPPGYYGLHCEHSTLSCADSPCFNGGSCRERNQGANYACECPPNFTGSNCE
KKVDRCTSNPCANGGQCLNRGPSRMCRCRPGFTGTYCELHVSDCARNPCAHGGTCHDLENGLMCTCPAGFSGRRCEVRTS
IDACASSPCFNRATCYTDLSTDTFVCNCPYGFVGSRCEFPVGLPPSFPWVAVSLGVGLAVLLVLLGMVAVAVRQLRLRRP
DDGSREAMNNLSDFQKDNLIPAAQLKNTNQKKELEVDCGLDKSNCGKQQNHTLDYNLAPGPVGRGTMPGKFPHSDKSLGE
KAPLRLHSEKPECRISAICSPRDSMYQSVCLISEERNECVIATEV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003011257 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DLL4 CLINVAR
OMIM 605185 CLINVAR