RGD:404990206 Rat Genome Database

RGD:404990206 Rat Genome Database

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Variant: RGD:404990206 - Homo sapiens

RGD ID:

404990206

ClinVar ID:

CV2979658

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ETHE1 LOC127891657

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	19	44,030,677
GRCh38	19	43,526,525

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001320868.2:c.-5G>A NM_001320867.2:c.216G>A NM_014297.5:c.216G>A NM_001320869.2:c.81+572G>A More...	12/14/2023	5 prime utr variant	likely benign	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)
CV2979658	Human	ethylmalonic encephalopathy		IAGP		8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:28492532

Gene Symbol:	ETHE1
Accession:	NM_001320868
Location:	5UTRS;EXON

Gene Symbol:	ETHE1
Accession:	NM_001320867
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	72

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

Gene Symbol:	ETHE1
Accession:	NM_014297
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	72

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

Gene Symbol:	ETHE1
Accession:	XM_005258687
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	45

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

Gene Symbol:	ETHE1
Accession:	NM_001320869
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003604413	CLINVAR
MedGen	C1865349	CLINVAR
NCBI Gene	ETHE1	CLINVAR
OMIM	602473	CLINVAR
	608451	CLINVAR