RGD:151663043 Rat Genome Database

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Variant: RGD:151663043 -  Homo sapiens

RGD ID: 151663043
RS ID: rs2113784630
ClinVar ID: CV1333659
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: H4C3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 26,104,450
GRCh38 6 26,104,222
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003542.4:c.275A>G
NC_000006.12:g.26104222A>G
NC_000006.11:g.26104450A>G
NP_003533.1:p.Lys92Arg
More... 		02/24/2022 missense variant pathogenic|likely pathogenic TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:H4C3
Accession:NM_003542
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGRGKGGKGLGKGGAKRHRKVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKVFLENVIRDAVTYTEHAKRK
TVTAMDVVYALRRQGRTLYGFGG*
Variant Samples
Additional References at PubMed
PMID:15808514   PMID:19818714   PMID:25741868   PMID:28920961  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001838837 CLINVAR
dbSNP (RS) rs2113784630 CLINVAR
MedGen C5676922 CLINVAR
NCBI Gene H4C3 CLINVAR
OMIM 602827 CLINVAR
  619758 CLINVAR
OMIM Allele 602827.0002 CLINVAR