rs11554495 Rat Genome Database

rs11554495 Rat Genome Database

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Variant: rs11554495 - Homo sapiens

RGD ID:

8599886

RS ID:

rs11554495

ClinVar ID:

CV29669

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KRT8

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	12	53,298,582
GRCh38	12	52,904,798

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000012.12:g.52904798C>A NC_000012.11:g.53298582C>A NP_002264.1:p.Gly62Cys NG_008402.2:g.50069G>T More...	12/23/2023	missense variant\|non-coding transcript variant	pathogenic\|risk factor\|benign\|likely benign\|uncertain significance\|not provided	AllHighlyPenetrant; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV29669	Human	Cryptogenic Cirrhosis		IAGP		8554872	ClinVar Annotator: match by term: Cirrhosis and cryptogenic	ClinVar	PMID:11372009 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV29669	Human	familial sick sinus syndrome		IAGP		405850206		GWAS_CATALOG	PMID:33580673
CV29669	Human	sick sinus syndrome		IAGP		405850206		GWAS_CATALOG	PMID:36282123

Data has come from the GWAS Catalog

QTL	GWAS Catalog Study	Disease Trait	Study Size	Risk Allele	Risk Allele Frequency	P Value	P Value MLOG	Peak Marker	Reported Odds Ratio or Beta-coefficient	Ontology Accession	PubMed
GWAS1299674_H	GCST011360	Sick sinus syndrome	6,189 European ancestry cases, 931,046 European ancestry controls	A	0.0164	9E-14	13.046	rs11554495	1.62		PMID:33580673
None Available	GCST90225551	Sick sinus syndrome	6,189 European ancestry cases, 931,046 European ancestry controls	A	0.0105	9E-14	13.046	rs11554495	1.62		PMID:36282123

Gene Symbol:	KRT8
Accession:	NM_002273
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	62

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSIRVTQKSYKVSTSGPRAFSSRSYTSGPGSRISSSSFSRVGSSNFRGGLGGGYGGASGMGCITAVTVNQSLLSPLVLEV DPNIQAVRTQEKEQIKTLNNKFASFIDKVRFLEQQNKMLETKWSLLQQQKTARSNMDNMFESYINNLRRQLETLGQEKLK LEAELGNMQGLVEDFKNKYEDEINKRTEMENEFVLIKKDVDEAYMNKVELESRLEGLTDEINFLRQLYEEEIRELQSQIS DTSVVLSMDNSRSLDMDSIIAEVKAQYEDIANRSRAEAESMYQIKYEELQSLAGKHGDDLRRTKTEISEMNRNISRLQAE IEGLKGQRASLEAAIADAEQRGELAIKDANAKLSELEAALQRAKQDMARQLREYQELMNVKLALDIEIATYRKLLEGEES RLESGMQNMSIHTKTTSGYAGGLSSAYGGLTSPGLSYSLGSSFGSGAGSSSFSRTSSSRAVVVKKIETRDGKLVSESSDV LPK*

Gene Symbol:	KRT8
Accession:	NM_001256293
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	62

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSIRVTQKSYKVSTSGPRAFSSRSYTSGPGSRISSSSFSRVGSSNFRGGLGGGYGGASGMGCITAVTVNQSLLSPLVLEV DPNIQAVRTQEKEQIKTLNNKFASFIDKVRFLEQQNKMLETKWSLLQQQKTARSNMDNMFESYINNLRRQLETLGQEKLK LEAELGNMQGLVEDFKNKYEDEINKRTEMENEFVLIKKDVDEAYMNKVELESRLEGLTDEINFLRQLYEEEIRELQSQIS DTSVVLSMDNSRSLDMDSIIAEVKAQYEDIANRSRAEAESMYQIKYEELQSLAGKHGDDLRRTKTEISEMNRNISRLQAE IEGLKGQRASLEAAIADAEQRGELAIKDANAKLSELEAALQRAKQDMARQLREYQELMNVKLALDIEIATYRKLLEGEES RLESGMQNMSIHTKTTSGYAGGLSSAYGGLTSPGLSYSLGSSFGSGAGSSSFSRTSSSRAVVVKKIETRDGKLVSESSDV LPK*

Gene Symbol:	KRT8
Accession:	NM_001256282
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	90

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGVSWSQDLQEGISAWFGPPASTPASTMSIRVTQKSYKVSTSGPRAFSSRSYTSGPGSRISSSSFSRVGSSNFRGGLGG GYGGASGMGCITAVTVNQSLLSPLVLEVDPNIQAVRTQEKEQIKTLNNKFASFIDKVRFLEQQNKMLETKWSLLQQQKTA RSNMDNMFESYINNLRRQLETLGQEKLKLEAELGNMQGLVEDFKNKYEDEINKRTEMENEFVLIKKDVDEAYMNKVELES RLEGLTDEINFLRQLYEEEIRELQSQISDTSVVLSMDNSRSLDMDSIIAEVKAQYEDIANRSRAEAESMYQIKYEELQSL AGKHGDDLRRTKTEISEMNRNISRLQAEIEGLKGQRASLEAAIADAEQRGELAIKDANAKLSELEAALQRAKQDMARQLR EYQELMNVKLALDIEIATYRKLLEGEESRLESGMQNMSIHTKTTSGYAGGLSSAYGGLTSPGLSYSLGSSFGSGAGSSSF SRTSSSRAVVVKKIETRDGKLVSESSDVLPK*

Gene Symbol:	KRT8
Accession:	NR_045962
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:11372009	PMID:12724528	PMID:15235035	PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000015735	CLINVAR
	RCV000056938	CLINVAR
	RCV002247346	CLINVAR
dbSNP (RS)	rs11554495	CLINVAR
GWAS Catalog	GCST011360	GWAS Catalog
MedGen	C0267809	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	KRT8	CLINVAR
OMIM	148060	CLINVAR
OMIM Allele	148060.0001	CLINVAR