RGD:405665025 Rat Genome Database

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Variant: RGD:405665025 -  Homo sapiens

RGD ID: 405665025
ClinVar ID: CV3286588
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARV1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 231,132,952
GRCh38 1 230,997,206
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_073623.1:p.Gln253His
NP_001333921.1:p.Gln286His
NM_022786.3:c.759G>C
NM_001346992.2:c.858G>C
More... 		09/20/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARV1
Accession:NM_022786
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNGGRSGLQQGKGNVDGVAATPTAASASCQYRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINA
ILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALEQTAYFIGIFT
FLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIWEHDYTSVCLKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLS
GLLLESIMVYFFHSMEWDVGSDYAIFKSQDF*

Gene Symbol:ARV1
Accession:NM_001346992
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNGGRSGLQQGKGNVDGVAATPTAASASCQYRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINA
ILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALGWSAVAQSQLT
AALNSWAQAILLPRPPQVAGTTEQTAYFIGIFTFLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIWEHDYTSVC
LKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLSGLLLESIMVYFFHSMEWDVGSDYAIFKSQDF*

Gene Symbol:ARV1
Accession:XM_024449202
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNGGRSGLQQGKGNVDGVAATPTAASASCQYRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINA
ILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALDRVSLCCLGWS
AVAQSQLTAALNSWAQAILLPRPPQVAGTTEQTAYFIGIFTFLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIW
EHDYTSVCLKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLSGLLLESIMVYFFHSMEWDVGSDYAIFKSQDF*

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004418326 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ARV1 CLINVAR
OMIM 611647 CLINVAR