rs1167625576 Rat Genome Database

rs1167625576 Rat Genome Database

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Variant: rs1167625576 - Homo sapiens

RGD ID:

151725933

RS ID:

rs1167625576

ClinVar ID:

CV1433384

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ETHE1 LOC127891656

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	19	44,030,391
GRCh38	19	43,526,239

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001320867.2:c.304C>T NG_008141.1:g.6006C>T NC_000019.10:g.43526239G>A NM_014297.5:c.337C>T More...	09/02/2021	intron variant	uncertain significance	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)
CV1433384	Human	ethylmalonic encephalopathy		IAGP		8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:28492532

Gene Symbol:	ETHE1
Accession:	NM_014297
Location:	EXON
Amino Acid Prediction:	H to Y (nonsynonymous)
Amino Acid Position:	113

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

Gene Symbol:	ETHE1
Accession:	XM_005258687
Location:	EXON
Amino Acid Prediction:	H to Y (nonsynonymous)
Amino Acid Position:	86

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRLSG AQADLYIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPG DCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA*

Gene Symbol:	ETHE1
Accession:	NM_001320867
Location:	EXON
Amino Acid Prediction:	H to Y (nonsynonymous)
Amino Acid Position:	102

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

Gene Symbol:	ETHE1
Accession:	NM_001320869
Location:	INTRON

Gene Symbol:	ETHE1
Accession:	NM_001320868
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001983678	CLINVAR
dbSNP (RS)	rs1167625576	CLINVAR
MedGen	C1865349	CLINVAR
NCBI Gene	ETHE1	CLINVAR
OMIM	602473	CLINVAR
	608451	CLINVAR