RGD:11628514 Rat Genome Database

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Variant: RGD:11628514 -  Homo sapiens

RGD ID: 11628514
RS ID: rs183974372
ClinVar ID: CV350671
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAG1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 10,653,603
GRCh38 20 10,672,955
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007496.1:g.6092G>T
NC_000020.11:g.10672955C>A
NC_000020.10:g.10653603C>A
NP_000205.1:p.Val45Leu
More... 		12/31/2019 missense variant benign|likely benign|conflicting interpretations of pathogenicity Alagille syndrome 1; AllHighlyPenetrant; HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC; JAG1-Related Alagille Syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:JAG1
Accession:NM_000214
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNLNGELQNGNCCGGARNPGDRKCTRDECDTYFKVCLK
EYQSRVTAGGPCSFGSGSTPVIGGNTFNLKASRGNDRNRIVLPFSFAWPRSYTLLVEAWDSSNDTVQPDSIIEKASHSGM
INPSRQWQTLKQNTGVAHFEYQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWMGPECNRAICRQGCSP
KHGSCKLPGDCRCQYGWQGLYCDKCIPHPGCVHGICNEPWQCLCETNWGGQLCDKDLNYCGTHQPCLNGGTCSNTGPDKY
QCSCPEGYSGPNCEIAEHACLSDPCHNRGSCKETSLGFECECSPGWTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVC
PPQWTGKTCQLDANECEAKPCVNAKSCKNLIASYYCDCLPGWMGQNCDININDCLGQCQNDASCRDLVNGYRCICPPGYA
GDHCERDIDECASNPCLNGGHCQNEINRFQCLCPTGFSGNLCQLDIDYCEPNPCQNGAQCYNRASDYFCKCPEDYEGKNC
SHLKDHCRTTPCEVIDSCTVAMASNDTPEGVRYISSNVCGPHGKCKSQSGGKFTCDCNKGFTGTYCHENINDCESNPCRN
GGTCIDGVNSYKCICSDGWEGAYCETNINDCSQNPCHNGGTCRDLVNDFYCDCKNGWKGKTCHSRDSQCDEATCNNGGTC
YDEGDAFKCMCPGGWEGTTCNIARNSSCLPNPCHNGGTCVVNGESFTCVCKEGWEGPICAQNTNDCSPHPCYNSGTCVDG
DNWYRCECAPGFAGPDCRININECQSSPCAFGATCVDEINGYRCVCPPGHSGAKCQEVSGRPCITMGSVIPDGAKWDDDC
NTCQCLNGRIACSKVWCGPRPCLLHKGHSECPSGQSCIPILDDQCFVHPCTGVGECRSSSLQPVKTKCTSDSYYQDNCAN
ITFTFNKEMMSPGLTTEHICSELRNLNILKNVSAEYSIYIACEPSPSANNEIHVAISAEDIRDDGNPIKEITDKIIDLVS
KRDGNSSLIAAVAEVRVQRRPLKNRTDFLVPLLSSVLTVAWICCLVTAFYWCLRKRRKPGSHTHSASEDNTTNNVREQLN
QIKNPIEKHGANTVPIKDYENKNSKMSKIRTHNSEVEEDDMDKHQQKARFAKQPAYTLVDREEKPPNGTPTKHPNWTNKQ
DNRDLESAQSLNRMEYIV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000303889 CLINVAR
  RCV000597398 CLINVAR
  RCV000618886 CLINVAR
  RCV000645022 CLINVAR
  RCV001672588 CLINVAR
dbSNP (RS) rs183974372 CLINVAR
MedGen C1956125 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
  CN239319 CLINVAR
NCBI Gene JAG1 CLINVAR
OMIM 118450 CLINVAR
  601920 CLINVAR