RGD:8562907 Rat Genome Database

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Variant: RGD:8562907 -  Homo sapiens

RGD ID: 8562907
RS ID: rs121964921
ClinVar ID: CV27147
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C7  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 40,955,530
GRCh38 5 40,955,428
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_30t1:c.1135G>C
LRG_30:g.50932G>C
NG_011692.1:g.50932G>C
NC_000005.10:g.40955428G>C
More... 		02/07/2022 missense|missense variant pathogenic|likely pathogenic C7 DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C7
Accession:NM_000587
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKVISLFILVGFIGEFQSFSSASSPVNCQWDFYAPWSECNGCTKTQTRRRSVAVYGQYGGQPCVGNAFETQSCEPTRGCP
TEEGCGERFRCFSGQCISKSLVCNGDSDCDEDSADEDRCEDSERRPSCDIDKPPPNIELTGNGYNELTGQFRNRVINTKS
FGGQCRKVFSGDGKDFYRLSGNVLSYTFQVKINNDFNYEFYNSTWSYVKHTSTEHTSSSRKRSFFRSSSSSSRSYTSHTN
EIHKGKSYQLLVVENTVEVAQFINNNPEFLQLAEPFWKELSHLPSLYDYSAYRRLIDQYGTHYLQSGSLGGEYRVLFYVD
SEKLKQNDFNSVEEKKCKSSGWHFVVKFSSHGCKELENALKAASGTQNNVLRGEPFIRRGGAGFISGLSYLELDNPAGNK
RRYSAWAESVTNLPQVIKQKLTPLYELVKEVPCASVKKLYLKWALEEYLDEFDPCHCRPCQNGGLATVEGTHCLCHCKPY
TFGAACEQGVLVGNQAGGVDGGWSCWSSWSPCVQGKKTRSRECNNPPPSGGGRSCVGETTESTQCEDEELEHLRLLEPHC
FPLSLVPTEFCPSPPALKDGFVQDEGTMFPVGKNVVYTCNEGYSLIGNPVARCGEDLRWLVGEMHCQKIACVLPVLMDGI
QSHPQKPFYTVGEKVTVSCSGGMSLEGPSAFLCGSSLKWSPEMKNARCVQKENPLTQAVPKCQRWEKLQNSRCVCKMPYE
CGPSLDVCAQDERSKRILPLTVCKMHVLHCQGRNYTLTGRDSCTLPASAEKACGACPLWGKCDAESSKCVCREASECEEE
GFSICVEVNGKEQTMSECEAGALRCRGQSISVTSIRPCAAETQ*
Variant Samples
Additional References at PubMed
PMID:9218625   PMID:12869030   PMID:15554930   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012891 CLINVAR
  RCV001380754 CLINVAR
  RCV003398492 CLINVAR
dbSNP (RS) rs121964921 CLINVAR
MedGen C1864694 CLINVAR
  C3661900 CLINVAR
NCBI Gene C7 CLINVAR
OMIM 217070 CLINVAR
  610102 CLINVAR
OMIM Allele 217070.0006 CLINVAR