RGD:156078794 Rat Genome Database

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Variant: RGD:156078794 -  Homo sapiens

RGD ID: 156078794
ClinVar ID: CV2375211
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRAMEF5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 13,112,632
GRCh38 1 13,259,317
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001013407.5:c.49C>G
NC_000001.11:g.13259317C>G
NC_000001.10:g.13112632G>C
NM_001013407.1:c.49C>G
More... 		04/22/2022 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PRAMEF5
Accession:NM_001013407
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSIRTPPRLLELAGRSVLRDQALAMSTLEELPTELFPPLFMEAFSRRRCEALKLMVQAWPFRRLPLRPLIKMPCLEAFQA
VLDGLDALLTQGVHPRRWKLQVLDLQDVCENFWMVWSEAMAHGCFLNAKRNKKPVQDCPRMRGQQPLTVFVELWLKNRTL
DEYLTCLLLWVKQRKDLLHLCCKKLKILGMPFRNIRSILKMVNLDCIQEVEVNCKWVLPILTQFTPYLGHMRNLQKLVLS
HMDVSRYVSPEQKKEIVTQFTTQFLKLCCLQKLSMNSVSFLEGHLDQLLSCLKTSLKVLTITNCVLLESDLKHLSQCPSI
SQLKTLDLSGIRLTNYSLVPLQILLEKVAATLEYLDLDDCGIIDSQVNAILPALSRCFELNTFSFCGNPISMATLENLLS
HTIILKNLCVELYPAPRESYDADGTLCWSRFPQIRAELMKRVRDLRHPKRILFCTDCCPDCGNRSFYDLEADQCCC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004230249 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PRAMEF5 CLINVAR