RGD:155974580 Rat Genome Database

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Variant: RGD:155974580 -  Homo sapiens

RGD ID: 155974580
ClinVar ID: CV2062679
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NMNAT1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 10,042,746
GRCh38 1 9,982,688
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001297778.1:c.827A>T
NM_022787.4:c.827A>T
NG_032954.1:g.44261A>T
NG_032954.2:g.44767A>T
More... 		06/22/2022 missense variant uncertain significance Amaurosis congenita of Leber, type 9; LCA 9; LCA9 Leber Congenital Amaurosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NMNAT1
Accession:NM_022787
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAVAKT*

Gene Symbol:NMNAT1
Accession:XM_047428076
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAVAKT*

Gene Symbol:NMNAT1
Accession:NM_001297778
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAVAKT*

Gene Symbol:NMNAT1
Accession:XM_017002107
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRVIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAVAKT*

Gene Symbol:NMNAT1
Accession:XM_011541971
Location:INTRON

Gene Symbol:NMNAT1
Accession:XM_017002108
Location:INTRON

Gene Symbol:NMNAT1
Accession:XM_047428080
Location:INTRON

Gene Symbol:NMNAT1
Accession:XM_047428082
Location:INTRON

Gene Symbol:NMNAT1
Accession:XM_047428077
Location:INTRON

Gene Symbol:NMNAT1
Accession:NM_001297779
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002842229 CLINVAR
MedGen C1837873 CLINVAR
NCBI Gene NMNAT1 CLINVAR
OMIM 608553 CLINVAR
  608700 CLINVAR