RGD:13836581 Rat Genome Database

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Variant: RGD:13836581 -  Homo sapiens

RGD ID: 13836581
RS ID: rs773974344
ClinVar ID: CV587857
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JAG1  LOC127892585  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 10,621,811
GRCh38 20 10,641,163
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1191t1:c.2998A>G
NM_000214.3:c.2998A>G
LRG_1191:g.37884A>G
NG_007496.1:g.37884A>G
More...
04/06/2018 missense variant uncertain significance Alagille syndrome 1; Charcot-Marie-Tooth disease, axonal, Type 2HH; Charcot-Marie-Tooth disease, axonal, Type 2HH; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH; Deafness, congenital heart defects, and posterior embryotoxon; Fallot tetralogy; JAG1-Related Alagille Syndrome; none provided; Tetralogy of Fallot
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:JAG1
Accession:NM_000214
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 1000
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARNPGDRKCTRDECDTYFKVCLK
EYQSRVTAGGPCSFGSGSTPVIGGNTFNLKASRGNDRNRIVLPFSFAWPRSYTLLVEAWDSSNDTVQPDSIIEKASHSGM
INPSRQWQTLKQNTGVAHFEYQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWMGPECNRAICRQGCSP
KHGSCKLPGDCRCQYGWQGLYCDKCIPHPGCVHGICNEPWQCLCETNWGGQLCDKDLNYCGTHQPCLNGGTCSNTGPDKY
QCSCPEGYSGPNCEIAEHACLSDPCHNRGSCKETSLGFECECSPGWTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVC
PPQWTGKTCQLDANECEAKPCVNAKSCKNLIASYYCDCLPGWMGQNCDININDCLGQCQNDASCRDLVNGYRCICPPGYA
GDHCERDIDECASNPCLNGGHCQNEINRFQCLCPTGFSGNLCQLDIDYCEPNPCQNGAQCYNRASDYFCKCPEDYEGKNC
SHLKDHCRTTPCEVIDSCTVAMASNDTPEGVRYISSNVCGPHGKCKSQSGGKFTCDCNKGFTGTYCHENINDCESNPCRN
GGTCIDGVNSYKCICSDGWEGAYCETNINDCSQNPCHNGGTCRDLVNDFYCDCKNGWKGKTCHSRDSQCDEATCNNGGTC
YDEGDAFKCMCPGGWEGTTCNIARNSSCLPNPCHNGGTCVVNGESFTCVCKEGWEGPICAQNTNDCSPHPCYNSGTCVDG
DNWYRCECAPGFAGPDCRININECQSSPCAFGATCVDEINGYRCVCPPGHSGAKCQEVSGRPCITMGSVIPDGAKWDDDC
NTCQCLNGRIACSKVWCGPRPCLLHKGHSECPSGQSCIPILDDQCFVHPCTGVGECRSSSLQPVKTKCTSDSYYQDNCAN
ITFTFNKEMMSPGLTTEHICSELRNLNILKNVSAEYSIYVACEPSPSANNEIHVAISAEDIRDDGNPIKEITDKIIDLVS
KRDGNSSLIAAVAEVRVQRRPLKNRTDFLVPLLSSVLTVAWICCLVTAFYWCLRKRRKPGSHTHSASEDNTTNNVREQLN
QIKNPIEKHGANTVPIKDYENKNSKMSKIRTHNSEVEEDDMDKHQQKARFAKQPAYTLVDREEKPPNGTPTKHPNWTNKQ
DNRDLESAQSLNRMEYIV*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000732743 CLINVAR
  RCV001138544 CLINVAR
  RCV001855693 CLINVAR
  RCV002440574 CLINVAR
  RCV002493345 CLINVAR
dbSNP (RS) rs773974344 CLINVAR
MedGen C1956125 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
  CN239319 CLINVAR
  CN517202 CLINVAR
NCBI Gene JAG1 CLINVAR
OMIM 118450 CLINVAR
  187500 CLINVAR
  601920 CLINVAR
  617992 CLINVAR
  619574 CLINVAR
SNOMED CT 86299006 CLINVAR