RGD:156076470 Rat Genome Database

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Variant: RGD:156076470 -  Homo sapiens

RGD ID: 156076470
ClinVar ID: CV2281590
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARSG  PRKAR1A  WIPI1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 66,424,997
GRCh38 17 68,428,856
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001352899.2:c.*263C>T
NM_001352904.2:c.*263C>T
NM_001352906.2:c.*263C>T
NM_001352905.2:c.*43+8350C>T
More... 		06/30/2022 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ARSG
Accession:XM_047435640
Location:3UTRS;EXON

Gene Symbol:ARSG
Accession:NM_001352904
Location:3UTRS;EXON

Gene Symbol:ARSG
Accession:XM_017024365
Location:3UTRS;EXON

Gene Symbol:ARSG
Accession:NM_001352902
Location:3UTRS;EXON

Gene Symbol:ARSG
Accession:NM_001352906
Location:3UTRS;EXON

Gene Symbol:ARSG
Accession:XM_047435639
Location:3UTRS;EXON

Gene Symbol:ARSG
Accession:XM_047435633
Location:3UTRS;EXON

Gene Symbol:ARSG
Accession:NM_001352899
Location:3UTRS;EXON

Gene Symbol:ARSG
Accession:NM_001352905
Location:3UTRS;INTRON

Gene Symbol:ARSG
Accession:XM_047435634
Location:3UTRS;INTRON

Gene Symbol:PRKAR1A
Accession:NM_001278433
Location:5UTRS;INTRON

Gene Symbol:WIPI1
Accession:NM_017983
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 349
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAEAADAPPGGVESALSCFSFNQDCTSLATGTKAGYKLFSLSSVEQLDQVHGSNEIPDVYIVERLFSSSLVVVVSHTKP
RQMNVYHFKKGTEICNYSYSSNILSIRLNRQRLLVCLEESIYIHNIKDMKLLKTLLDIPANPTGLCALSINHSNSYLAYP
GSLTSGEIVLYDGNSLKTVCTIAAHEGTLAAITFNASGSKLASASEKGTVIRVFSVPDGQKLYEFRRGMKRYVTISSLVF
SMDSQFLCASSNTETVHIFKLEQVTNSRPEEPSTWSGYMGKMFMAATNYLPTQVSDMMHQDRAFATARLNFSGQRNICTL
STIQKLPRLLVASSSGHLYMYNLDPQDGVECVLIKTHSLLGSGTTEENKENDLRPSLPQSYAATVARPSASSASTVPGYS
EDGGALRGEVIPEHEFATGPVCLDDENEFPPIILCRGNQKGKTKQS*

Gene Symbol:WIPI1
Accession:XM_017024808
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLLKTLLDIPANPTGLCALSINHSNSYLAYPGSLTSGEIVLYDGNSLKTVCTIAAHEGTLAAITFNASGSKLASASEKG
TVIRVFSVPDGQKLYEFRRGMKRYVTISSLVFSMDSQFLCASSNTETVHIFKLEQVTNSRPEEPSTWSGYMGKMFMAATN
YLPTQVSDMMHQDRAFATARLNFSGQRNICTLSTIQKLPRLLVASSSGHLYMYNLDPQDGVECVLIKTHSLLGSGTTEEN
KENDLRPSLPQSYAATVARPSASSASTVPGYSEDGGALRGEVIPEHEFATGPVCLDDENEFPPIILCRGNQKGKTKQS*

Gene Symbol:WIPI1
Accession:NM_001320772
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVYHFKKGTEICNYSYSSNILSIRLNRQRLLVCLEESIYIHNIKDMKLLKTLLDIPANPTGLCALSINHSNSYLAYPGS
LTSGEIVLYDGNSLKTVCTIAAHEGTLAAITFNASGSKLASASEKGTVIRVFSVPDGQKLYEFRRGMKRYVTISSLVFSM
DSQFLCASSNTETVHIFKLEQVTNSRPEEPSTWSGYMGKMFMAATNYLPTQVSDMMHQDRAFATARLNFSGQRNICTLST
IQKLPRLLVASSSGHLYMYNLDPQDGVECVLIKTHSLLGSGTTEENKENDLRPSLPQSYAATVARPSASSASTVPGYSED
GGALRGEVIPEHEFATGPVCLDDENEFPPIILCRGNQKGKTKQS*

Gene Symbol:WIPI1
Accession:NR_135471
Location:EXON;NON-CODING

Gene Symbol:WIPI1
Accession:NR_135470
Location:EXON;NON-CODING

Gene Symbol:ARSG
Accession:XR_007065287
Location:EXON;NON-CODING

Gene Symbol:PRKAR1A
Accession:NM_212472
Location:INTRON

Gene Symbol:PRKAR1A
Accession:XM_047436370
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435642
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435652
Location:INTRON

Gene Symbol:ARSG
Accession:NM_001352901
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435651
Location:INTRON

Gene Symbol:ARSG
Accession:NM_001267727
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435646
Location:INTRON

Gene Symbol:ARSG
Accession:NM_001352900
Location:INTRON

Gene Symbol:PRKAR1A
Accession:NM_001369390
Location:INTRON

Gene Symbol:PRKAR1A
Accession:NM_212471
Location:INTRON

Gene Symbol:ARSG
Accession:NM_001352903
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435637
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435636
Location:INTRON

Gene Symbol:ARSG
Accession:NM_001352909
Location:INTRON

Gene Symbol:PRKAR1A
Accession:XM_047436369
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435648
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435638
Location:INTRON

Gene Symbol:PRKAR1A
Accession:NM_001276290
Location:INTRON

Gene Symbol:ARSG
Accession:XM_017024368
Location:INTRON

Gene Symbol:ARSG
Accession:XM_017024360
Location:INTRON

Gene Symbol:ARSG
Accession:XM_011524546
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435647
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435645
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435654
Location:INTRON

Gene Symbol:ARSG
Accession:NM_014960
Location:INTRON

Gene Symbol:ARSG
Accession:NM_001352907
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435655
Location:INTRON

Gene Symbol:PRKAR1A
Accession:XM_011524984
Location:INTRON

Gene Symbol:ARSG
Accession:NM_001352910
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435632
Location:INTRON

Gene Symbol:ARSG
Accession:XM_011524537
Location:INTRON

Gene Symbol:PRKAR1A
Accession:NM_001369389
Location:INTRON

Gene Symbol:PRKAR1A
Accession:NM_002734
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435643
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435635
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435650
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435644
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435653
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435641
Location:INTRON

Gene Symbol:PRKAR1A
Accession:NM_001276289
Location:INTRON

Gene Symbol:ARSG
Accession:XM_011524536
Location:INTRON

Gene Symbol:ARSG
Accession:XM_047435649
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004153886 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ARSG CLINVAR
  PRKAR1A CLINVAR
  WIPI1 CLINVAR
OMIM 188830 CLINVAR
  609224 CLINVAR
  610008 CLINVAR