RGD:15186249 Rat Genome Database

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Variant: RGD:15186249 -  Homo sapiens

RGD ID: 15186249
RS ID: rs2298090
ClinVar ID: CV699485
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: H1-4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 26,157,073
GRCh38 6 26,156,845
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005321.3:c.455A>G
NC_000006.12:g.26156845A>G
NC_000006.11:g.26157073A>G
NM_005321.2:c.455A>G
More... 		12/31/2019 missense variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:H1-4
Accession:NM_005321
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSETAPAAPAAPAPAEKTPVKKKARKSAGAAKRKASGPPVSELITKAVAASKERSGVSLAALKKALAAAGYDVEKNNSRI
KLGLKSLVSKGTLVQTKGTGASGSFKLNKKAASGEAKPKAKKAGAAKAKKPAGAAKKPKKATGAATPKKSARKTPKKAKK
PAAAAGAKKAKSPKKAKAAKPKKAPKSPAKAKAVKPKAAKPKTAKPKAAKPKKAAAKKK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000953226 CLINVAR
dbSNP (RS) rs2298090 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene H1-4 CLINVAR
OMIM 142220 CLINVAR