rs138427304 Rat Genome Database

rs138427304 Rat Genome Database

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Variant: rs138427304 - Homo sapiens

RGD ID:

127274585

RS ID:

rs138427304

ClinVar ID:

CV1106584

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	19	44,015,716
GRCh38	19	43,511,564

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001320867.2:c.345G>C NM_014297.5:c.378G>C NM_001320869.2:c.84G>C NM_001320868.2:c.9G>C More...	05/24/2020	synonymous 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)
CV1106584	Human	ethylmalonic encephalopathy		IAGP		8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:28492532

Gene Symbol:	ETHE1
Accession:	NM_001320868
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	3

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVS TVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA*

Gene Symbol:	ETHE1
Accession:	XM_005258687
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	99

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

Gene Symbol:	ETHE1
Accession:	NM_014297
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	126

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

Gene Symbol:	ETHE1
Accession:	NM_001320869
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	28

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEAVLRVARRQLSQRGGSGAPILLRQALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSV HEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA*

Gene Symbol:	ETHE1
Accession:	NM_001320867
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	115

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001442906	CLINVAR
dbSNP (RS)	rs138427304	CLINVAR
MedGen	C1865349	CLINVAR
NCBI Gene	ETHE1	CLINVAR
OMIM	602473	CLINVAR
	608451	CLINVAR