rs886054480 Rat Genome Database

rs886054480 Rat Genome Database

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Variant: rs886054480 - Homo sapiens

RGD ID:

11662469

RS ID:

rs886054480

ClinVar ID:

CV333729

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ETHE1 LOC127891656

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	19	44,030,411
GRCh38	19	43,526,259

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_008141.1:g.5986G>C NC_000019.10:g.43526259C>G NC_000019.9:g.44030411C>G NM_014297.3:c.317G>C More...	01/12/2018	intron variant	uncertain significance	infancy	<1 / 1 000 000	Encephalopathy, petechiae, and ethylmalonic aciduria; EPEMA syndrome; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV333729	Human	ethylmalonic encephalopathy		IAGP		8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar
CV333729	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	ETHE1
Accession:	NM_014297
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	106

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHC HADHITGSGLLRSLLPGCQSVISRLTGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRG CGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFA VPANMRCGVQTPTA*

Gene Symbol:	ETHE1
Accession:	XM_005258687
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	79

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRLTG AQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPG DCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA*

Gene Symbol:	ETHE1
Accession:	NM_001320867
Location:	EXON
Amino Acid Prediction:	S to T (nonsynonymous)
Amino Acid Position:	95

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAGSGLL RSLLPGCQSVISRLTGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCA KTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQT PTA*

Gene Symbol:	ETHE1
Accession:	NM_001320869
Location:	INTRON

Gene Symbol:	ETHE1
Accession:	NM_001320868
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000386460	CLINVAR
	RCV004619262	CLINVAR
dbSNP (RS)	rs886054480	CLINVAR
MedGen	C0950123	CLINVAR
	C1865349	CLINVAR
NCBI Gene	ETHE1	CLINVAR
OMIM	602473	CLINVAR
	608451	CLINVAR