RGD:155986223 Rat Genome Database

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Variant: RGD:155986223 -  Homo sapiens

RGD ID: 155986223
ClinVar ID: CV2363625
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRAMEF5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 13,111,644
GRCh38 1 13,260,305
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.371G>C
NC_000001.11:g.13260305G>C
NC_000001.10:g.13111644C>G
NM_001013407.1:c.371G>C
More... 		08/12/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PRAMEF5
Accession:NM_001013407
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSIRTPPRLLELAGRSLLRDQALAMSTLEELPTELFPPLFMEAFSRRRCEALKLMVQAWPFRRLPLRPLIKMPCLEAFQA
VLDGLDALLTQGVHPRRWKLQVLDLQDVCENFWMVWSEAMAHGSFLNAKRNKKPVQDCPRMRGQQPLTVFVELWLKNRTL
DEYLTCLLLWVKQRKDLLHLCCKKLKILGMPFRNIRSILKMVNLDCIQEVEVNCKWVLPILTQFTPYLGHMRNLQKLVLS
HMDVSRYVSPEQKKEIVTQFTTQFLKLCCLQKLSMNSVSFLEGHLDQLLSCLKTSLKVLTITNCVLLESDLKHLSQCPSI
SQLKTLDLSGIRLTNYSLVPLQILLEKVAATLEYLDLDDCGIIDSQVNAILPALSRCFELNTFSFCGNPISMATLENLLS
HTIILKNLCVELYPAPRESYDADGTLCWSRFPQIRAELMKRVRDLRHPKRILFCTDCCPDCGNRSFYDLEADQCCC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004216578 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PRAMEF5 CLINVAR