RGD:401928868 Rat Genome Database

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Variant: RGD:401928868 -  Homo sapiens

RGD ID: 401928868
ClinVar ID: CV2829304
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HDAC8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 71,550,552
GRCh38 X 72,330,702
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001410727.1:c.1034-626C>T
NM_018486.3:c.1112-626C>T
NM_001410725.1:c.1178C>T
NM_001166418.2:c.839-626C>T
More... 		09/01/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HDAC8
Accession:NM_001410725
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY
YQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTG
VILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTMEGQRNLK
HVV*

Gene Symbol:HDAC8
Accession:NM_001410728
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRDEASGFCYLNDAVLGILRLRRKFER
ILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEV
YQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEI
PDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTMEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:XM_047442256
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCKVAINWSGGWHHAKKDEASGFCYLNDAVLGILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFP
GTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLK
YILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYI
KEKWPVGFGAQCFYLGKCGKAKTMEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:XM_047442257
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMC
SFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPD
RNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTMEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:XM_017029644
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRDEASGFCYLNDAVLGILRLRRKFER
ILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSF
NMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRN
EPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTMEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:XM_017029643
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKNVLKEVYQAFNPKAV
VLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAY
GPDYVLEITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTMEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:XM_017029640
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ
KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
GILRLRRKFERILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGA
DTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVL
EITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTMEGQRNLKHVV*

Gene Symbol:HDAC8
Accession:NM_001410727
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001410730
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_018486
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001410729
Location:INTRON

Gene Symbol:HDAC8
Accession:XM_047442255
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001166422
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001166418
Location:INTRON

Gene Symbol:HDAC8
Accession:XM_017029645
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001166419
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001166448
Location:INTRON

Gene Symbol:HDAC8
Accession:NM_001166420
Location:INTRON

Gene Symbol:HDAC8
Accession:XM_047442252
Location:INTRON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003439640 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HDAC8 CLINVAR
OMIM 300269 CLINVAR