RGD:156191597 Rat Genome Database

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Variant: RGD:156191597 -  Homo sapiens

RGD ID: 156191597
ClinVar ID: CV2223113
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PXMP4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 32,298,410
GRCh38 20 33,710,604
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_183397.3:c.177-2635T>C
NM_007238.5:c.326T>C
NC_000020.11:g.33710604A>G
NC_000020.10:g.32298410A>G
More... 		08/12/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PXMP4
Accession:NM_007238
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPPQLRALLVVVNALLRKRRYHAALAVLKGFRNGAVYGAKIRAPHALVMTFLFRNGSLQEKLWAILQATYIHSWNLAR
FVFTYKGLRALQSYIQGKTYPAHAFLAASLGGILVFGENNNINSQINMYLLSRVLFALSRLAVEKGYIPEPRWDPFPLLT
AVVWGLVLWLFEYHRSTLQPSLQSSMTYLYEDSNVWHDISDFLVYNKSRPSN*

Gene Symbol:PXMP4
Accession:NM_183397
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004103962 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PXMP4 CLINVAR
OMIM 616397 CLINVAR