RGD:15189576 Rat Genome Database

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Variant: RGD:15189576 -  Homo sapiens

RGD ID: 15189576
RS ID: rs140251959
ClinVar ID: CV732259
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARV1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 231,114,924
GRCh38 1 230,979,178
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001346992.2:c.73G>T
NM_022786.3:c.73G>T
NG_052022.1:g.5130G>T
NC_000001.11:g.230979178G>T
More... 		10/01/2023 missense variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARV1
Accession:XM_024449202
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNGGRSGLQQGKGNVDGVAATPTSASASCQYRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINA
ILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALDRVSLCCLGWS
AVAQSQLTAALNSWAQAILLPRPPQVAGTTEQTAYFIGIFTFLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIW
EHDYTSVCLKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLSGLLLESIMVYFFQSMEWDVGSDYAIFKSQDF*

Gene Symbol:ARV1
Accession:NM_001346992
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNGGRSGLQQGKGNVDGVAATPTSASASCQYRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINA
ILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALGWSAVAQSQLT
AALNSWAQAILLPRPPQVAGTTEQTAYFIGIFTFLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIWEHDYTSVC
LKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLSGLLLESIMVYFFQSMEWDVGSDYAIFKSQDF*

Gene Symbol:ARV1
Accession:NM_022786
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNGGRSGLQQGKGNVDGVAATPTSASASCQYRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINA
ILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALEQTAYFIGIFT
FLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIWEHDYTSVCLKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLS
GLLLESIMVYFFQSMEWDVGSDYAIFKSQDF*

Gene Symbol:ARV1
Accession:XR_002957381
Location:EXON;NON-CODING

Gene Symbol:ARV1
Accession:XR_007063028
Location:EXON;NON-CODING

Gene Symbol:ARV1
Accession:NR_144538
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000909691 CLINVAR
  RCV003958303 CLINVAR
dbSNP (RS) rs140251959 CLINVAR
MedGen C3661900 CLINVAR
  CN235539 CLINVAR
NCBI Gene ARV1 CLINVAR
  LOC129932761 CLINVAR
OMIM 611647 CLINVAR