rs770713772 Rat Genome Database

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Variant: rs770713772 -  Homo sapiens

RGD ID: 151742910
RS ID: rs770713772
ClinVar ID: CV1431683
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJC2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 228,346,596
GRCh38 1 228,158,895
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020435.4:c.1137G>A
NG_011838.1:g.14044G>A
NP_065168.2:p.Ala379=
NC_000001.11:g.228158895G>A
More... 		08/30/2021 synonymous variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
paraplegia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GJC2
Accession:NM_020435
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDAFAPLSHVRFW
VFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETG
AAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVR
PFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRGRRGPPASAPAPAPRPPPCAF
PAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSA
GTVGEQGRPGTHERPGAKPRAGSEKGSASSRDGKTTVWI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001926642 CLINVAR
dbSNP (RS) rs770713772 CLINVAR
MedGen C0037772 CLINVAR
NCBI Gene GJC2 CLINVAR
OMIM 608803 CLINVAR