RGD:402498560 Rat Genome Database

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Variant: RGD:402498560 -  Homo sapiens

RGD ID: 402498560
ClinVar ID: CV3170335
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130068621  RNF113A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 119,005,446
GRCh38 X 119,871,483
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006978.3:c.131G>A
NG_203035.1:g.138C>T
NG_009381.1:g.4713C>T
NG_021227.1:g.5346G>A
More... 		01/31/2024 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RNF113A
Accession:NM_006978
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQLSPGKAVDQVCTFLFKKPGRKGAAGRRKRPACDPEPGESVSSSDEGCTVVRPEKKRVTHNPMIQKTRDSGKQKAAY
GDLSSEEEEENEPESLGVVYKSTRSAKPVGPEDMGATAVYELDTEKERDAQAIFERSQKIQEELRGKEDDKIYRGINNYQ
KYMKPKDTSMGNASSGMVRKGPIRAPEHLRATVRWDYQPDICKDYKETGFCGFGDSCKFLHDRSDYKHGWQIERELDEGR
YGVYEDENYEVGSDDEEIPFKCFICRQSFQNPVVTKCRHYFCESCALQHFRTTPRCYVCDQQTNGVFNPAKELIAKLEKH
RATGEGGASDLPEDPDEDAIPIT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003877707 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC130068621 CLINVAR
  RNF113A CLINVAR
OMIM 300951 CLINVAR