RGD:401780059 Rat Genome Database

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Variant: RGD:401780059 -  Homo sapiens

RGD ID: 401780059
ClinVar ID: CV2676799
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AZIN2  TRIM62  ZNF362  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 33,625,434
GRCh38 1 33,159,833
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330483.2:c.253C>T
NM_018207.3:c.616C>T
NC_000001.11:g.33159833G>A
NC_000001.10:g.33625434G>A
More... 		05/15/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZNF362
Accession:XM_047447108
Location:5UTRS;INTRON

Gene Symbol:TRIM62
Accession:NM_018207
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACSLKDELLCSICLSIYQDPVSLGCEHYFCRRCITEHWVRQEAQGARDCPECRRTFAEPALAPSLKLANIVERYSSFPL
DAILNARRAARPCQAHDKVKLFCLTDRALLCFFCDEPALHEQHQVTGIDDAFDELQRELKDQLQALQDSEREHTEALQLL
KRQLAETKSSTKSLRTTIGEAFERLHRLLRERQKAMLEELEADTASTLTDIEQKVQRYSQQLRKVQEGAQILQERLAETD
RHTFLAGVASLSERLKGKIHETNLTYEDFPTSKYTGPLQYTIWKSLFQDIHPVPAALTLDPGTAHQRLILSDDCTIVAYG
NLHPQPLQDSPKRFDVEVSVLGSEAFSSGVHYWEVVVAEKTQWVIGLAHEAASRKGSIQIQPSRGFYCIVMHDGNQYSAC
TEPWTRLNVRDKLDKVGVFLDYDQGLLIFYNADDMSWLYTFREKFPGKLCSYFSPGQSHANGKNVQPLRINTVRI*

Gene Symbol:TRIM62
Accession:NM_001330483
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEKTAVDQPWTQALRELKDQLQALQDSEREHTEALQLLKRQLAETKSSTKSLRTTIGEAFERLHRLLRERQKAMLEELE
ADTASTLTDIEQKVQRYSQQLRKVQEGAQILQERLAETDRHTFLAGVASLSERLKGKIHETNLTYEDFPTSKYTGPLQYT
IWKSLFQDIHPVPAALTLDPGTAHQRLILSDDCTIVAYGNLHPQPLQDSPKRFDVEVSVLGSEAFSSGVHYWEVVVAEKT
QWVIGLAHEAASRKGSIQIQPSRGFYCIVMHDGNQYSACTEPWTRLNVRDKLDKVGVFLDYDQGLLIFYNADDMSWLYTF
REKFPGKLCSYFSPGQSHANGKNVQPLRINTVRI*

Gene Symbol:ZNF362
Accession:XM_005270508
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_052998
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001350402
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001301825
Location:INTRON

Gene Symbol:AZIN2
Accession:XM_024452818
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001350400
Location:INTRON

Gene Symbol:ZNF362
Accession:NM_001370212
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001376729
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001376732
Location:INTRON

Gene Symbol:AZIN2
Accession:XM_047443474
Location:INTRON

Gene Symbol:AZIN2
Accession:XM_011540563
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001301826
Location:INTRON

Gene Symbol:AZIN2
Accession:XM_017000174
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001301823
Location:INTRON

Gene Symbol:AZIN2
Accession:XM_011540566
Location:INTRON

Gene Symbol:ZNF362
Accession:XM_047447109
Location:INTRON

Gene Symbol:AZIN2
Accession:XM_011540557
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001350399
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001301824
Location:INTRON

Gene Symbol:AZIN2
Accession:XM_017000175
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001376727
Location:INTRON

Gene Symbol:AZIN2
Accession:XM_047443450
Location:INTRON

Gene Symbol:ZNF362
Accession:XM_047447110
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001350401
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001376725
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001376730
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001376724
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001376722
Location:INTRON

Gene Symbol:AZIN2
Accession:XM_047443473
Location:INTRON

Gene Symbol:ZNF362
Accession:XM_047447107
Location:INTRON

Gene Symbol:ZNF362
Accession:XM_005270507
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001293562
Location:INTRON

Gene Symbol:AZIN2
Accession:XM_047443457
Location:INTRON

Gene Symbol:ZNF362
Accession:NM_152493
Location:INTRON

Gene Symbol:AZIN2
Accession:NM_001350398
Location:INTRON

Gene Symbol:AZIN2
Accession:NR_146648
Location:INTRON;NON-CODING

Gene Symbol:AZIN2
Accession:NR_126031
Location:INTRON;NON-CODING

Gene Symbol:AZIN2
Accession:NR_146649
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004290969 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AZIN2 CLINVAR
  TRIM62 CLINVAR
  ZNF362 CLINVAR
OMIM 608353 CLINVAR
  616755 CLINVAR