RGD:12905083 Rat Genome Database

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Variant: RGD:12905083 -  Homo sapiens

RGD ID: 12905083
RS ID: rs755500591
ClinVar ID: CV413204
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LGI4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 35,617,777
GRCh38 19 35,126,873
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.35126873C>G
NC_000019.9:g.35617777C>G
NP_644813.1:p.Arg258Pro
NM_139284.2:c.773G>C
More... 		05/02/2017 missense variant pathogenic Arthrogryposis multiplex congenita, neurogenic, with myelin defect
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LGI4
Accession:XM_017026428
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDY
SLQRFPPEEELPAASVVSCKPLVLGPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDAELLWLEGQPCFV
VADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYAT
RHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQ
ELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA*

Gene Symbol:LGI4
Accession:XM_017026429
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDY
SLQRFPPEEELPAASVVSCKPLVLGPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDAELLWLEGQPCFV
VADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYAT
RHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQ
ELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA*

Gene Symbol:LGI4
Accession:NM_139284
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGAGILLLLLAGAGVVVAWRPPKGKCPLRCSCSKDSALCEGSPDLPVSFSPTLLSLSLVRTGVTQLKAGSFLRIPSLHL
LLFTSNSFSVIEDDAFAGLSHLQYLFIEDNEIGSISKNALRGLRSLTHLSLANNHLETLPRFLFRGLDTLTHVDLRGNPF
QCDCRVLWLLQWMPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQP
FAGRCLILSWDYSLQRFPPEEELPAASVVSCKPLVLGPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDA
ELLWLEGQPCFVVADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERR
TDIPEAEDVYATRHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLR
LEPDKGLLEPLQELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA*

Gene Symbol:LGI4
Accession:XM_017026430
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDY
SLQRFPPEEELPAASVVSCKPLVLGPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDAELLWLEGQPCFV
VADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYAT
RHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQ
ELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA*

Gene Symbol:LGI4
Accession:XM_047438343
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDY
SLQRFPPEEELPAASVVSCKPLVLGPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDAELLWLEGQPCFV
VADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYAT
RHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQ
ELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA*
Variant Samples
Additional References at PubMed
PMID:28318499  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000487487 CLINVAR
dbSNP (RS) rs755500591 CLINVAR
MedGen C4479539 CLINVAR
NCBI Gene LGI4 CLINVAR
OMIM 608303 CLINVAR
  617468 CLINVAR
OMIM Allele 608303.0005 CLINVAR