RGD:156162550 Rat Genome Database

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Variant: RGD:156162550 -  Homo sapiens

RGD ID: 156162550
ClinVar ID: CV2311825
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PA2G4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 56,503,707
GRCh38 12 56,109,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006191.3:c.617C>T
NC_000012.12:g.56109923C>T
NC_000012.11:g.56503707C>T
NM_006191.2:c.617C>T
More... 		11/03/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PA2G4
Accession:NM_006191
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGEDEQQEQTIAEDLVVTKYKMGGDIANRVLRSLVEASSSGVSVLSLCEKGDAMIMEETGKIFKKEKEMKKGIAFPTSI
SVNNCVCHFSPLKSDQDYILKEGDLVKIDLGVHVDGFIANVAHTFVVDVAQGTQVTGRKADVIKAAHLCAEAALRLVKPG
NQNTQVTEAWNKVAHSFNCTPIEGMLSHQLKQHVIDGEKTIIQNPIDQQKKDHEKAEFEVHEVYAVDVLVSSGEGKAKDA
GQRTTIYKRDPSKQYGLKMKTSRAFFSEVERRFDAMPFTLRAFEDEKKARMGVVECAKHELLQPFNVLYEKEGEFVAQFK
FTVLLMPNGPMRITSGPFEPDLYKSEMEVQDAELKALLQSSASRKTQKKKKKKASKTAENATSGETLEENEAGD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004170674 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PA2G4 CLINVAR
OMIM 602145 CLINVAR