RGD:13796155 Rat Genome Database

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Variant: RGD:13796155 -  Homo sapiens

RGD ID: 13796155
RS ID: rs1569317995
ClinVar ID: CV551800
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HDAC8  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 71,684,523
GRCh38 X 72,464,673
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015851.1:g.113431G>C
NP_060956.1:p.Ala266Pro
NC_000023.11:g.72464673C>G
NC_000023.10:g.71684523C>G
More... 		05/18/2018 missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HDAC8
Accession:XM_017029640
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 240
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGP
DTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVL
EITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:NM_001410729
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY
YQICESVLKEVYQAFNPKAVVLQLGPDTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGDRRL*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY
YQICESVLKEVYQAFNPKAVVLQLGPDTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTG
VILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLK
HVV*

Gene Symbol:HDAC8
Accession:XM_017029643
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKNVLKEVYQAFNPKAV
VLQLGPDTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAY
GPDYVLEITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:XM_047442256
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCKVAINWSGGWHHAKKDEASGFCYLNDAVLGILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFP
GTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGPDTIAGDPMCSFNMTPVGIGKCLK
YILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYI
KEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:NM_001410728
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRDEASGFCYLNDAVLGILRLRRKFER
ILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEV
YQAFNPKAVVLQLGPDTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEI
PDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:XM_017029645
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKNVLKEVYQAFNPKAV
VLQLGPDTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAY
GPDYVLEITPSCRPDRNEPHRIQQILNYIKGNLKHVV*

Gene Symbol:HDAC8
Accession:XM_047442255
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRDEASGFCYLNDAVLGILRLRRKFER
ILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGPDTIAGDPMCSF
NMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRN
EPHRIQQILNYIKGNLKHVV*

Gene Symbol:HDAC8
Accession:NM_001410727
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 240
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGP
DTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVL
EITPSCRPDRNEPHRIQQILNYIKGNLKHVV*

Gene Symbol:HDAC8
Accession:NM_001410725
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY
YQICESVLKEVYQAFNPKAVVLQLGPDTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTG
VILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLK
HVV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRDEASGFCYLNDAVLGILRLRRKFER
ILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEV
YQAFNPKAVVLQLGPDTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEI
PDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:XM_047442252
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY
YQICESVLKEVYQAFNPKAVVLQLGPDTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTG
VILGKTLSSEIPDHENMPVNT*

Gene Symbol:HDAC8
Accession:NM_018486
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY
YQICESVLKEVYQAFNPKAVVLQLGPDTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTG
VILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKGNLKHVV*

Gene Symbol:HDAC8
Accession:XM_047442257
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGPDTIAGDPMC
SFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPD
RNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:NM_001166418
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRDEASGFCYLNDAVLGILRLRRKFER
ILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEV
YQAFNPKAVVLQLGPDTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEI
PDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKGNLKHVV*

Gene Symbol:HDAC8
Accession:XM_017029644
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRDEASGFCYLNDAVLGILRLRRKFER
ILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGPDTIAGDPMCSF
NMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRN
EPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 240
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGP
DTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVL
EITPSCRPDRNEPHRIQQILNYIKGNLKHVV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY
YQICESVLKEVYQAFNPKAVVLQLGPDTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGDRRL*

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

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

Gene Symbol:HDAC8
Accession:NM_001166420
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001166422
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001166419
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001410730
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001166448
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000678911 CLINVAR
dbSNP (RS) rs1569317995 CLINVAR
MedGen C3550903 CLINVAR
NCBI Gene HDAC8 CLINVAR
OMIM 300269 CLINVAR
  300882 CLINVAR