RGD:329362463 Rat Genome Database

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Variant: RGD:329362463 -  Homo sapiens

RGD ID: 329362463
ClinVar ID: CV2463913
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: H2AC15  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 27,806,051
GRCh38 6 27,838,273
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003510.3:c.67G>T
NC_000006.12:g.27838273C>A
NC_000006.11:g.27806051C>A
NM_003510.2:c.67G>T
More... 		02/27/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:H2AC15
Accession:NM_003510
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGRGKQGGKARAKAKTRSSRACLQFPVGRVHRLLRKGNYAERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRII
PRHLQLAIRNDEELNKLLGKVTIAQGGVLPNIQAVLLPKKTESHHKAKGK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004279982 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene H2AC15 CLINVAR
  LOC129996141 CLINVAR
OMIM 602788 CLINVAR