RGD:405668366 Rat Genome Database

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Variant: RGD:405668366 -  Homo sapiens

RGD ID: 405668366
ClinVar ID: CV3308265
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: QPRT  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 29,706,293
GRCh38 16 29,694,972
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318250.2:c.105+217C>G
NM_001318249.1:c.115-2024C>G
NM_014298.6:c.322C>G
NG_133570.1:g.77C>G
More... 		09/22/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:QPRT
Accession:XM_005255223
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAEGLALLLPPVTLAALVDSWLREDCPGLNYAALVSGAGPSQAALWAKSPGVLAGQPFFDAIFTQLNCQVSWFLPEGSK
LVPVARVAEVRGPAHCLLLGERVALNTVARCSGIASAAAAAVEAARGAGWTGHVAGTRKTTPGFRLVEKYGLLVGGAASH
RYDLGGLVMVKDNHVVAAGGVEKQAVRAARQAADFTLKVEVECSSLQEAVQAAEAGADLVLLDNFKPEELHPTATVLKAQ
FPSVAVEASGGITLDNLPQFCGPHIDVISMGMLTQAAPALDFSLKLFAKEVAPVPKIH*

Gene Symbol:QPRT
Accession:NM_014298
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAEGLALLLPPVTLAALVDSWLREDCPGLNYAALVSGAGPSQAALWAKSPGVLAGQPFFDAIFTQLNCQVSWFLPEGSK
LVPVARVAEVRGPAHCLLLGERVALNTVARCSGIASAAAAAVEAARGAGWTGHVAGTRKTTPGFRLVEKYGLLVGGAASH
RYDLGGLVMVKDNHVVAAGGVEKAVRAARQAADFTLKVEVECSSLQEAVQAAEAGADLVLLDNFKPEELHPTATVLKAQF
PSVAVEASGGITLDNLPQFCGPHIDVISMGMLTQAAPALDFSLKLFAKEVAPVPKIH*

Gene Symbol:QPRT
Accession:NM_001318250
Location:INTRON

Gene Symbol:QPRT
Accession:NM_001318249
Location:INTRON

Gene Symbol:QPRT
Accession:NR_134536
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004440737 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene QPRT CLINVAR
OMIM 606248 CLINVAR