rs140332366 Rat Genome Database

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Variant: rs140332366 -  Homo sapiens

RGD ID: 151661843
RS ID: rs140332366
ClinVar ID: CV1192609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 20,716,865
GRCh38 13 20,142,726
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021954.4:c.563A>G
NG_016399.1:g.23319A>G
NC_000013.11:g.20142726T>C
NC_000013.10:g.20716865T>C
More... 		01/21/2023 missense variant likely pathogenic|uncertain significance CATARACT 14, COPPOCK-LIKE; CATARACT 14, EMBRYONAL NUCLEAR; CATARACT 14, NUCLEAR CORALLIFORM; CATARACT 14, NUCLEAR PULVERULENT; CATARACT 14, NUCLEAR PULVERULENT AND POSTERIOR POLAR; CATARACT 14, ZONULAR PULVERULENT; Zonular pulverulent cataract 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJA3
Accession:NM_021954
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWAL
QIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESPSPKEPPQDNPSSRDDRGRVRMAGALLRTYVFNIIFKTLFE
VGFIAGQYFLYGFELKPLYRCDRWPCPSTVDCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLKQGVTSRLGP
DASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLLALTEARGKGQSAKLYNGHHH
LLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSPPLAHEAEAGAAPLLLDGSGSSLEGSALAGTPEEEEQAVTT
AAQMHQPPLPLGDPGRASKASRASSGRARPEDLAI*

Gene Symbol:GJA3
Accession:XM_011535048
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWAL
QIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESPSPKEPPQDNPSSRDDRGRVRMAGALLRTYVFNIIFKTLFE
VGFIAGQYFLYGFELKPLYRCDRWPCPSTVDCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLKQGVTSRLGP
DASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLLALTEARGKGQSAKLYNGHHH
LLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSPPLAHEAEAGAAPLLLDGSGSSLEGSALAGTPEEEEQAVTT
AAQMHQPPLPLGDPGRASKASRASSGRARPEDLAI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:35008666  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001837018 CLINVAR
dbSNP (RS) rs140332366 CLINVAR
MedGen C1866078 CLINVAR
NCBI Gene GJA3 CLINVAR
OMIM 121015 CLINVAR
  601885 CLINVAR