RGD:13211459 Rat Genome Database

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Variant: RGD:13211459 -  Homo sapiens

RGD ID: 13211459
RS ID: rs1555948969
ClinVar ID: CV426754
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HDAC8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 71,571,613
GRCh38 X 72,351,763
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_015851.1:g.226341C>T
NC_000023.11:g.72351763G>A
NC_000023.10:g.71571613G>A
NP_060956.1:p.Arg361Ter
More...
08/17/2017 non-coding transcript variant|nonsense pathogenic|likely pathogenic antenatal 1-9 / 100 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HDAC8
Accession:NM_018486
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY
YQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTG
VILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPH*IQQILNYIKGNLKHVV*

Gene Symbol:HDAC8
Accession:NM_001166418
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRDEASGFCYLNDAVLGILRLRRKFER
ILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEV
YQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEI
PDHEFFTAYGPDYVLEITPSCRPDRNEPH*IQQILNYIKGNLKHVV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY
YQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTG
VILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPH*IQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLK
HVV*

Gene Symbol:HDAC8
Accession:XM_017029644
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRDEASGFCYLNDAVLGILRLRRKFER
ILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSF
NMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRN
EPH*IQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:XM_017029645
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKNVLKEVYQAFNPKAV
VLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAY
GPDYVLEITPSCRPDRNEPH*IQQILNYIKGNLKHVV*

Gene Symbol:HDAC8
Accession:XM_017029643
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKNVLKEVYQAFNPKAV
VLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAY
GPDYVLEITPSCRPDRNEPH*IQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 335
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGA
DTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVL
EITPSCRPDRNEPH*IQQILNYIKGNLKHVV*

Gene Symbol:HDAC8
Accession:XM_017029640
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 335
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGA
DTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVL
EITPSCRPDRNEPH*IQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRDEASGFCYLNDAVLGILRLRRKFER
ILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEV
YQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEI
PDHEFFTAYGPDYVLEITPSCRPDRNEPH*IQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:XM_047442255
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRDEASGFCYLNDAVLGILRLRRKFER
ILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSF
NMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRN
EPH*IQQILNYIKGNLKHVV*

Gene Symbol:HDAC8
Accession:XM_047442256
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCKVAINWSGGWHHAKKDEASGFCYLNDAVLGILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFP
GTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLK
YILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPH*IQQILNYI
KEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:XM_047442257
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMC
SFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPD
RNEPH*IQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:NM_001410728
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRDEASGFCYLNDAVLGILRLRRKFER
ILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEV
YQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEI
PDHEFFTAYGPDYVLEITPSCRPDRNEPH*IQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:NM_001410727
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 335
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGA
DTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVL
EITPSCRPDRNEPH*IQQILNYIKGNLKHVV*

Gene Symbol:HDAC8
Accession:NM_001410725
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY
YQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTG
VILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPH*IQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLK
HVV*

Gene Symbol:HDAC8
Accession:NR_051952
Location:EXON;NON-CODING

Gene Symbol:HDAC8
Accession:XR_938402
Location:EXON;NON-CODING

Gene Symbol:HDAC8
Accession:NM_001166419
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001166448
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001166422
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001166420
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:HDAC8
Accession:XM_047442252
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001410729
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001410730
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000497470 CLINVAR
dbSNP (RS) rs1555948969 CLINVAR
MedGen C3550903 CLINVAR
NCBI Gene HDAC8 CLINVAR
OMIM 300269 CLINVAR
  300882 CLINVAR