RGD:156135696 Rat Genome Database

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Variant: RGD:156135696 -  Homo sapiens

RGD ID: 156135696
ClinVar ID: CV2113303
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMOX1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 35,783,150
GRCh38 22 35,387,157
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.617C>T
NG_023030.1:g.11091C>T
NC_000022.11:g.35387157C>T
NC_000022.10:g.35783150C>T
More... 		02/10/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HMOX1
Accession:NM_002133
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERPQPDSMPQDLSEALKEATKEVHTQAENAEFMRNFQKGQVTRDGFKLVMASLYHIYVALEEEIERNKESPVFAPVYFP
EELHRKAALEQDLAFWYGPRWQEVIPYTPAMQRYVKRLHEVGRTEPELLVAHAYTRYLGDLSGGQVLKKIAQKALDLPSS
GEGLAFFTFPNIASATKFKQLYRSRMNSLEMTPAVRQRVIEEAKTVFLLNIQLFEELQELLTHDTKDQSPSRAPGLRQRA
SNKVQDSAPVETPRGKPPLNTRSQAPLLRWVLTLSFLVATVAVGLYAM*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002928369 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene HMOX1 CLINVAR
OMIM 141250 CLINVAR