RGD:156123986 Rat Genome Database

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Variant: RGD:156123986 -  Homo sapiens

RGD ID: 156123986
ClinVar ID: CV1969311
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMOX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 35,783,081
GRCh38 22 35,387,088
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002133.3:c.548G>A
NG_023030.1:g.11022G>A
NC_000022.11:g.35387088G>A
NC_000022.10:g.35783081G>A
More... 		08/12/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HMOX1
Accession:NM_002133
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERPQPDSMPQDLSEALKEATKEVHTQAENAEFMRNFQKGQVTRDGFKLVMASLYHIYVALEEEIERNKESPVFAPVYFP
EELHRKAALEQDLAFWYGPRWQEVIPYTPAMQRYVKRLHEVGRTEPELLVAHAYTRYLGDLSGGQVLKKIAQKALDLPSS
GEGLAFFTFPNIASATKFKQLYHSRMNSLEMTPAVRQRVIEEAKTAFLLNIQLFEELQELLTHDTKDQSPSRAPGLRQRA
SNKVQDSAPVETPRGKPPLNTRSQAPLLRWVLTLSFLVATVAVGLYAM*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002593236 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HMOX1 CLINVAR
OMIM 141250 CLINVAR