rs57758506 Rat Genome Database

rs57758506 Rat Genome Database

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Variant: rs57758506 - Homo sapiens

RGD ID:

8599865

RS ID:

rs57758506

ClinVar ID:

CV29624

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KRT18 KRT8 LOC106096416

Reference Nucleotide:

A

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	12	53,343,340
GRCh38	12	52,949,556

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_008351.1:g.5686A>T NC_000012.12:g.52949556A>T NC_000012.11:g.53343340A>T NP_000215.1:p.His128Leu More...	06/27/2003	intron variant\|missense\|missense variant\|non-coding transcript variant	pathogenic\|risk factor\|not provided	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV29624	Human	Cryptogenic Cirrhosis		IAGP		8554872	ClinVar Annotator: match by term: Cirrhosis and cryptogenic	ClinVar	PMID:12724528 and PMID:9011570
CV29624	Human	Familial Cirrhosis		IAGP		8554872	ClinVar Annotator: match by term: Cirrhosis more ...	ClinVar	PMID:12724528 and PMID:9011570

Gene Symbol:	KRT8
Accession:	NM_001256293
Location:	5UTRS;INTRON

Gene Symbol:	KRT18
Accession:	NM_199187
Location:	EXON
Amino Acid Prediction:	H to L (nonsynonymous)
Amino Acid Position:	128

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSRISVSRSTSFRGGMGSGGLATGIAGGLAGMGGIQNE KETMQSLNDRLASYLDRVRSLETENRRLESKIREHLEKKGPQVRDWSLYFKIIEDLRAQIFANTVDNARIVLQIDNARLA ADDFRVKYETELAMRQSVENDIHGLRKVIDDTNITRLQLETEIEALKEELLFMKKNHEEEVKGLQAQIASSGLTVEVDAP KSQDLAKIMADIRAQYDELARKNREELDKYWSQQIEESTTVVTTQSAEVGAAETTLTELRRTVQSLEIDLDSMRNLKASL ENSLREVEARYALQMEQLNGILLHLESELAQTRAEGQRQAQEYEALLNIKVKLEAEIATYRRLLEDGEDFNLGDALDSSN SMQTIQKTTTRRIVDGKVVSETNDTKVLRH*

Gene Symbol:	KRT18
Accession:	NM_000224
Location:	EXON
Amino Acid Prediction:	H to L (nonsynonymous)
Amino Acid Position:	128

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSRISVSRSTSFRGGMGSGGLATGIAGGLAGMGGIQNE KETMQSLNDRLASYLDRVRSLETENRRLESKIREHLEKKGPQVRDWSLYFKIIEDLRAQIFANTVDNARIVLQIDNARLA ADDFRVKYETELAMRQSVENDIHGLRKVIDDTNITRLQLETEIEALKEELLFMKKNHEEEVKGLQAQIASSGLTVEVDAP KSQDLAKIMADIRAQYDELARKNREELDKYWSQQIEESTTVVTTQSAEVGAAETTLTELRRTVQSLEIDLDSMRNLKASL ENSLREVEARYALQMEQLNGILLHLESELAQTRAEGQRQAQEYEALLNIKVKLEAEIATYRRLLEDGEDFNLGDALDSSN SMQTIQKTTTRRIVDGKVVSETNDTKVLRH*

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

Gene Symbol:	KRT8
Accession:	NM_002273
Location:	INTRON

Gene Symbol:	KRT8
Accession:	NM_001256282
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:9011570	PMID:12724528

Database	Acc Id	Source(s)
ClinVar	RCV000015686	CLINVAR
	RCV000015687	CLINVAR
	RCV000056435	CLINVAR
dbSNP (RS)	rs57758506	CLINVAR
MedGen	C0267809	CLINVAR
	C1835713	CLINVAR
	C3661900	CLINVAR
NCBI Gene	106096416	CLINVAR
	KRT18	CLINVAR
	KRT8	CLINVAR
OMIM	148060	CLINVAR
	148070	CLINVAR
OMIM Allele	148070.0001	CLINVAR