rs886050020 Rat Genome Database

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Variant: rs886050020 -  Homo sapiens

RGD ID: 11645444
RS ID: rs886050020
ClinVar ID: CV333833
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 20,716,346
GRCh38 13 20,142,207
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016399.1:g.23838C>T
NC_000013.11:g.20142207G>A
NC_000013.10:g.20716346G>A
NP_068773.2:p.Pro361Leu
More... 		01/13/2018 missense variant 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: P to L (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWAL
QIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESPSPKEPPQDNPSSRDDRGRVRMAGALLRTYVFNIIFKTLFE
VGFIAGQYFLYGFELKPLYRCDRWPCPNTVDCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLKQGVTSRLGP
DASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLLALTEARGKGQSAKLYNGHHH
LLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSPLLAHEAEAGAAPLLLDGSGSSLEGSALAGTPEEEEQAVTT
AAQMHQPPLPLGDPGRASKASRASSGRARPEDLAI*

Gene Symbol:GJA3
Accession:XM_011535048
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWAL
QIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESPSPKEPPQDNPSSRDDRGRVRMAGALLRTYVFNIIFKTLFE
VGFIAGQYFLYGFELKPLYRCDRWPCPNTVDCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLKQGVTSRLGP
DASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLLALTEARGKGQSAKLYNGHHH
LLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSPLLAHEAEAGAAPLLLDGSGSSLEGSALAGTPEEEEQAVTT
AAQMHQPPLPLGDPGRASKASRASSGRARPEDLAI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265377 CLINVAR
dbSNP (RS) rs886050020 CLINVAR
MedGen C1866078 CLINVAR
NCBI Gene GJA3 CLINVAR
OMIM 121015 CLINVAR
  601885 CLINVAR