RGD:11040240 Rat Genome Database

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Variant: RGD:11040240 -  Homo sapiens

RGD ID: 11040240
RS ID: rs140505250
ClinVar ID: CV223657
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARR3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 69,500,654
GRCh38 X 70,280,804
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.70280804C>T
NC_000023.10:g.69500654C>T
NP_004303.2:p.Pro351Leu
NG_050734.1:g.22302C>T
More...
01/01/2013 missense variant likely benign|uncertain significance Anophthalmia - microphthalmia; Anophthalmia/Microphthalmia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARR3
Accession:NM_004312
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKVFKKTSSNGKLSIYLGKRDFVDHVDTVEPIDGVVLVDPEYLKCRKLFVMLTCAFRYGRDDLEVIGLTFRKDLYVQTL
QVVPAESSSPQGPLTVLQERLLHKLGDNAYPFTLQMVTNLPCSVTLQPGPEDAGKPCGIDFEVKSFCAENPEETVSKRDY
VRLVVRKVQFAPPEAGPGPSAQTIRRFLLSAQPLQLQAWMDREVHYHGEPISVNVSINNCTNKVIKKIKISVDQITDVVL
YSLDKYTKTVFIQEFTETVAANSSFSQSFAVTPILAASCQKRGLALDGKLKHEDTNLASSTIIRPGMDKELLGILVSYKV
RVNLMVSCGGILGDLTASDVGVELPLVLIHLKPSHEAASSEDIVIEEFTRKGEEESQKAVEAEGDEGS*

Gene Symbol:ARR3
Accession:XM_047442105
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 359
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKVFKKTSSNGKLSIYLGKRDFVDHVDTVEPIVLSVLLSTDGVVLVDPEYLKCRKLFVMLTCAFRYGRDDLEVIGLTFR
KDLYVQTLQVVPAESSSPQGPLTVLQERLLHKLGDNAYPFTLQMVTNLPCSVTLQPGPEDAGKPCGIDFEVKSFCAENPE
ETVSKRDYVRLVVRKVQFAPPEAGPGPSAQTIRRFLLSAQPLQLQAWMDREVHYHGEPISVNVSINNCTNKVIKKIKISV
DQITDVVLYSLDKYTKTVFIQEFTETVAANSSFSQSFAVTPILAASCQKRGLALDGKLKHEDTNLASSTIIRPGMDKELL
GILVSYKVRVNLMVSCGGILGDLTASDVGVELPLVLIHLKPSHEAASSEDIVIEEFTRKGEEESQKAVEAEGDEGS*

Variant Samples
Additional References at PubMed
PMID:26893459   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000207379 CLINVAR
  RCV001573333 CLINVAR
dbSNP (RS) rs140505250 CLINVAR
MedGen C3661900 CLINVAR
  C5680330 CLINVAR
NCBI Gene ARR3 CLINVAR
OMIM 301770 CLINVAR