RGD:38598388 Rat Genome Database

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Variant: RGD:38598388 -  Homo sapiens

RGD ID: 38598388
RS ID: rs1776561731
ClinVar ID: CV965411
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HDAC2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 114,277,851
GRCh38 6 113,956,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001527.4:c.290T>C
NC_000006.12:g.113956687A>G
NC_000006.11:g.114277851A>G
NR_073443.2:n.488T>C
More... 		12/30/2019 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:HDAC2
Accession:NM_001527
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAYSQGGGKKKVCYYYDGDIGNYYYGQGHPMKPHRIRMTHNLLLNYGLYRKMEIYRPHKATAEEMTKYHSDEYIKFLRSI
RPDNMSEYSKQMQRFNAGEDCPVFDGLFEFCQLSTGGSVAGAVKLNRQQTDMAVNWAGGLHHAKKSEASGFCYVNDIVLA
ILELLKYHQRVLYIDIDIHHGDGVEEAFYTTDRVMTVSFHKYGEYFPGTGDLRDIGAGKGKYYAVNFPMRDGIDDESYGQ
IFKPIISKVMEMYQPSAVVLQCGADSLSGDRLGCFNLTVKGHAKCVEVVKTFNLPLLMLGGGGYTIRNVARCWTYETAVA
LDCEIPNELPYNDYFEYFGPDFKLHISPSNMTNQNTPEYMEKIKQRLFENLRMLPHAPGVQMQAIPEDAVHEDSGDEDGE
DPDKRISIRASDKRIACDEEFSDSEDEGEGGRRNVADHKKGAKKARIEEDKKETEDKKTDVKEEDKSKDNSGEKTDTKGT
KSEQLSNP*

Gene Symbol:HDAC2
Accession:XM_047418692
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKPHRIRMTHNLLLNYGLYRKMEIYRPHKATAEEMTKYHSDEYIKFLRSIRPDNMSEYSKQMQRFNAGEDCPVFDGLFEF
CQLSTGGSVAGAVKLNRQQTDMAVNWAGGLHHAKKSEASGFCYVNDIVLAILELLKYHQRVLYIDIDIHHGDGVEEAFYT
TDRVMTVSFHKYGEYFPGTGDLRDIGAGKGKYYAVNFPMRDGIDDESYGQIFKPIISKVMEMYQPSAVVLQCGADSLSGD
RLGCFNLTVKGHAKCVEVVKTFNLPLLMLGGGGYTIRNVARCWTYETAVALDCEIPNELPYNDYFEYFGPDFKLHISPSN
MTNQNTPEYMEKIKQRLFENLRMLPHAPGVQMQAIPEDAVHEDSGDEDGEDPDKRISIRASDKRIACDEEFSDSEDEGEG
GRRNVADHKKGAKKARIEEDKKETEDKKTDVKEEDKSKDNSGEKTDTKGTKSEQLSNP*

Gene Symbol:HDAC2
Accession:NR_033441
Location:EXON;NON-CODING

Gene Symbol:HDAC2
Accession:NR_073443
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001254873 CLINVAR
dbSNP (RS) rs1776561731 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HDAC2 CLINVAR
OMIM 605164 CLINVAR