RGD:156153502 Rat Genome Database

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Variant: RGD:156153502 -  Homo sapiens

RGD ID: 156153502
ClinVar ID: CV2374851
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127895850  OSM  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 30,660,012
GRCh38 22 30,264,023
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001319108.2:c.556C>T
NM_020530.6:c.619C>T
NG_145411.1:g.293G>A
NC_000022.11:g.30264023G>A
More... 		12/28/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OSM
Accession:NM_020530
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLLTQRTLLSLVLALLFPSMASMAAIGSCSKEYRVLLGQLQKQTDLMQDTSRLLDPYIRIQGLDVPKLREHCRERPGA
FPSEETLRGLGRRGFLQTLNATLGCVLHRLADLEQRLPKAQDLERSGLNIEDLEKLQMARPNILGLRNNIYCMAQLLDNS
DTAEPTKAGRGASQPPTPTPASDAFQRKLEGCRFLHGYHRFMHSVGWVFSKWGESPNRSRRHSPHQALRKGVRRTRPSRK
GKRLMTRGQLPR*

Gene Symbol:OSM
Accession:NM_001319108
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAIGSCSKEYRVLLGQLQKQTDLMQDTSRLLDPYIRIQGLDVPKLREHCRERPGAFPSEETLRGLGRRGFLQTLNA
TLGCVLHRLADLEQRLPKAQDLERSGLNIEDLEKLQMARPNILGLRNNIYCMAQLLDNSDTAEPTKAGRGASQPPTPTPA
SDAFQRKLEGCRFLHGYHRFMHSVGWVFSKWGESPNRSRRHSPHQALRKGVRRTRPSRKGKRLMTRGQLPR*

Gene Symbol:OSM
Accession:XM_047441387
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAIGSCSKEYRVLLGQLQKQTDLMQDTSRLLDPYIRIQGLDVPKLREHCRERPGAFPSEETLRGLGRRGFLQTLNA
TLGCVLHRLADLEQRLPKAQDLERSGLNIEDLEKLQMARPNILGLRNNIYCMAQLLDNSDTAEPTKAGRGASQPPTPTPA
SDAFQRKLEGCRFLHGYHRFMHSVGWVFSKWGESPNRSRRHSPHQALRKGVRRTRPSRKGKRLMTRGQLPR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004227882 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene OSM CLINVAR
OMIM 165095 CLINVAR