RGD:408393999 Rat Genome Database

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Variant: RGD:408393999 -  Homo sapiens

RGD ID: 408393999
ClinVar ID: CV3521670
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LGI4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 35,617,643
GRCh38 19 35,126,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_139284.3:c.830G>C
NC_000019.10:g.35126739C>G
NC_000019.9:g.35617643C>G
NP_644813.1:p.Gly277Ala
 09/22/2024 missense variant uncertain significance Arthrogryposis multiplex congenita, neurogenic, with myelin defect
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LGI4
Accession:NM_139284
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 277
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGAGILLLLLAGAGVVVAWRPPKGKCPLRCSCSKDSALCEGSPDLPVSFSPTLLSLSLVRTGVTQLKAGSFLRIPSLHL
LLFTSNSFSVIEDDAFAGLSHLQYLFIEDNEIGSISKNALRGLRSLTHLSLANNHLETLPRFLFRGLDTLTHVDLRGNPF
QCDCRVLWLLQWMPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQP
FAGRCLILSWDYSLQRFRPEEELPAASVVSCKPLVLAPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDA
ELLWLEGQPCFVVADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERR
TDIPEAEDVYATRHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLR
LEPDKGLLEPLQELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA*

Gene Symbol:LGI4
Accession:XM_047438343
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDY
SLQRFRPEEELPAASVVSCKPLVLAPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDAELLWLEGQPCFV
VADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYAT
RHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQ
ELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA*

Gene Symbol:LGI4
Accession:XM_017026428
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDY
SLQRFRPEEELPAASVVSCKPLVLAPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDAELLWLEGQPCFV
VADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYAT
RHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQ
ELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA*

Gene Symbol:LGI4
Accession:XM_017026429
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDY
SLQRFRPEEELPAASVVSCKPLVLAPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDAELLWLEGQPCFV
VADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYAT
RHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQ
ELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA*

Gene Symbol:LGI4
Accession:XM_017026430
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDY
SLQRFRPEEELPAASVVSCKPLVLAPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDAELLWLEGQPCFV
VADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYAT
RHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQ
ELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV004764468 CLINVAR
MedGen C4479539 CLINVAR
NCBI Gene LGI4 CLINVAR
OMIM 608303 CLINVAR
  617468 CLINVAR