RGD:12742383 Rat Genome Database

Variant: RGD:12742383 - Homo sapiens

RGD ID:

12742383

RS ID:

rs1057518047

ClinVar ID:

CV360657

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

HDAC8

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	71,787,757
GRCh38	X	72,567,907

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001166448.2:c.164+4150G>T NG_015851.1:g.10197G>T NC_000023.11:g.72567907C>A NC_000023.10:g.71787757C>A More...	01/15/2016	intron variant	likely pathogenic	none provided

Variant Details

Variant Transcripts

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKDEASGFCYLNDAVL GILRLRRKFERILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGA DTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVL EITPSCRPDRNEPHRIQQILNYIKGNLKHVV*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKDEASGFCYLNDAVL GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY YQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTG VILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLK HVV*

Gene Symbol:	HDAC8
Accession:	NM_018486
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKDEASGFCYLNDAVL GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY YQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTG VILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKGNLKHVV*

Gene Symbol:	HDAC8
Accession:	NM_001166419
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKDEASGFCYLNDAVL GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY YQICERYEPPAPNPGL*

Gene Symbol:	HDAC8
Accession:	XM_017029640
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKDEASGFCYLNDAVL GILRLRRKFERILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGA DTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVL EITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:	HDAC8
Accession:	XM_017029643
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKNVLKEVYQAFNPKAV VLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAY GPDYVLEITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:	HDAC8
Accession:	NM_001410727
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKDEASGFCYLNDAVL GILRLRRKFERILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGA DTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVL EITPSCRPDRNEPHRIQQILNYIKGNLKHVV*

Gene Symbol:	HDAC8
Accession:	XM_047442252
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKDEASGFCYLNDAVL GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY YQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTG VILGKTLSSEIPDHENMPVNT*

Gene Symbol:	HDAC8
Accession:	NM_001410729
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKDEASGFCYLNDAVL GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY YQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGDRRL*

Gene Symbol:	HDAC8
Accession:	XM_047442256
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	11

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCKVAINWSGVWHHAKKDEASGFCYLNDAVLGILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFP GTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLK YILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYI KEKWPVGFGAQCFYLGKCGKAKTTEGQRNLKHVV*

Gene Symbol:	HDAC8
Accession:	NM_001166422
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKETCVYVALYKAF*

Gene Symbol:	HDAC8
Accession:	XM_017029645
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKNVLKEVYQAFNPKAV VLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDHEFFTAY GPDYVLEITPSCRPDRNEPHRIQQILNYIKGNLKHVV*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKDEASGFCYLNDAVL GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY YQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGDRRL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKDEASGFCYLNDAVL GILRLRRKFERILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICERYEPPAPNPGL*

Gene Symbol:	HDAC8
Accession:	NM_001166420
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKK*

Gene Symbol:	HDAC8
Accession:	NM_001410730
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKDEASGFCYLNDAVL GILRLRRKFERILYVDLDLHHGDGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKYYQICERYEPPAPNPGL*

Gene Symbol:	HDAC8
Accession:	NM_001410725
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSLIEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQ KVSQEGDDDHPDSIEYGLGYDCPATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGVWHHAKKDEASGFCYLNDAVL GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVGLGKGRYYSVNVPIQDGIQDEKY YQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCSFNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTG VILGKTLSSEIPDHEFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKEKWPVGFGAQCFYLGKCGKAKTTEGQRNLK HVV*

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

Gene Symbol:	HDAC8
Accession:	NM_001410728
Location:	INTRON

Gene Symbol:	HDAC8
Accession:	XM_047442257
Location:	INTRON

Gene Symbol:	HDAC8
Accession:	XM_047442255
Location:	INTRON

Gene Symbol:	HDAC8
Accession:	NM_001166448
Location:	INTRON

Gene Symbol:	HDAC8
Accession:	XM_017029644
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	HDAC8
Accession:	NM_001166418
Location:	INTRON

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000413537	CLINVAR
dbSNP (RS)	rs1057518047	CLINVAR
MedGen	CN517202	CLINVAR
NCBI Gene	HDAC8	CLINVAR
OMIM	300269	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message

Variant: RGD:12742383 - Homo sapiens