rs771336246 Rat Genome Database

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Variant: rs771336246 - Homo sapiens

RGD ID:

26909884

RS ID:

rs771336246

ClinVar ID:

CV856129

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NMNAT1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	10,035,827
GRCh38	1	9,975,769

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001297778.1:c.293T>G NM_001297779.2:c.293T>G NM_022787.4:c.293T>G NG_032954.1:g.37342T>G More...	10/14/2023	missense variant	pathogenic\|likely pathogenic	Amaurosis congenita of Leber, type 9; Inherited retinal dystrophy; LCA 9; LCA9 Leber Congenital Amaurosis; none provided; SHILCA SYNDROME

Disease Annotations Click to see Annotation Detail View

fundus dystrophy (IAGP)

Leber congenital amaurosis 9 (IAGP)

spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Retinal dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	NMNAT1
Accession:	NM_001297778
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	98

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV EVDTWESLQKEWKETLKGLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT*

Gene Symbol:	NMNAT1
Accession:	XM_011541971
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	98

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV EVDTWESLQKEWKETLKGLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKGL*

Gene Symbol:	NMNAT1
Accession:	XM_017002108
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	98

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV EVDTWESLQKEWKETLKGLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAASS*

Gene Symbol:	NMNAT1
Accession:	XM_047428082
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	98

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV EVDTWESLQKEWKETLKGLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA *

Gene Symbol:	NMNAT1
Accession:	XM_017002107
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	98

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV EVDTWESLQKEWKETLKGLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT*

Gene Symbol:	NMNAT1
Accession:	NM_022787
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	98

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV EVDTWESLQKEWKETLKGLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT*

Gene Symbol:	NMNAT1
Accession:	XM_047428076
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	98

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV EVDTWESLQKEWKETLKGLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT*

Gene Symbol:	NMNAT1
Accession:	XM_047428077
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	98

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV EVDTWESLQKEWKETLKGLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA *

Gene Symbol:	NMNAT1
Accession:	NM_001297779
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	98

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV EVDTWESLQKEWKETLKGLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA *

Gene Symbol:	NMNAT1
Accession:	XM_047428080
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	98

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV EVDTWESLQKEWKETLKGLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA *

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:22842227	PMID:22842230	PMID:22842231	PMID:25741868	PMID:26018082	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001074108	CLINVAR
	RCV001256659	CLINVAR
	RCV001551709	CLINVAR
	RCV002221606	CLINVAR
dbSNP (RS)	rs771336246	CLINVAR
MedGen	C0854723	CLINVAR
	C1837873	CLINVAR
	C3661900	CLINVAR
	C5543257	CLINVAR
NCBI Gene	NMNAT1	CLINVAR
OMIM	608553	CLINVAR
	608700	CLINVAR
	619260	CLINVAR
SNOMED CT	314407005	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: rs771336246 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: rs771336246 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar