RGD:401937570 Rat Genome Database

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Variant: RGD:401937570 -  Homo sapiens

RGD ID: 401937570
ClinVar ID: CV2815803
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPS27A  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 55,462,594
GRCh38 2 55,235,458
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001135592.2:c.352C>A
NM_001177413.1:c.352C>A
NM_002954.6:c.352C>A
NG_033063.1:g.2106G>T
More... 		08/01/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RPS27A
Accession:NM_001135592
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGAKKR
KKKSYTTPKKNKHKRKKVKLAVLKYYKVDENGKISRLSRECPSDECGAGVFMASHFDRHYCGKCCLTYCFNKPEDK*

Gene Symbol:RPS27A
Accession:NM_002954
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGAKKR
KKKSYTTPKKNKHKRKKVKLAVLKYYKVDENGKISRLSRECPSDECGAGVFMASHFDRHYCGKCCLTYCFNKPEDK*

Gene Symbol:RPS27A
Accession:NM_001177413
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGAKKR
KKKSYTTPKKNKHKRKKVKLAVLKYYKVDENGKISRLSRECPSDECGAGVFMASHFDRHYCGKCCLTYCFNKPEDK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003415581 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RPS27A CLINVAR
OMIM 191343 CLINVAR