RGD:156031565 Rat Genome Database

RGD:156031565 Rat Genome Database

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Variant: RGD:156031565 - Homo sapiens

RGD ID:

156031565

ClinVar ID:

CV2059167

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ETHE1 LOC127891656

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	19	44,030,443
GRCh38	19	43,526,291

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001320867.2:c.252C>G NM_014297.5:c.285C>G NM_001320868.2:c.6+224C>G NM_001320869.2:c.81+806C>G More...	05/19/2022	intron 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)
CV2059167	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:	L to L (synonymous)
Amino Acid Position:	95

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:	68

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

Gene Symbol:	ETHE1
Accession:	NM_001320867
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	84

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAGSGLL RSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCA 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	RCV002796074	CLINVAR
MedGen	C1865349	CLINVAR
NCBI Gene	ETHE1	CLINVAR
OMIM	602473	CLINVAR
	608451	CLINVAR