rs756903689 Rat Genome Database

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Variant: rs756903689 -  Homo sapiens

RGD ID: 28879501
RS ID: rs756903689
ClinVar ID: CV858980
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NMNAT1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 10,035,733
GRCh38 1 9,975,675
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032954.1:g.37248G>T
NP_073624.2:p.Val67Phe
NM_001297778.1:c.199G>T
NM_001297779.2:c.199G>T
More... 		07/19/2022 missense variant pathogenic|uncertain significance Amaurosis congenita of Leber, type 9; LCA 9; LCA9 Leber Congenital Amaurosis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NMNAT1
Accession:XM_047428082
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRFIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA
*

Gene Symbol:NMNAT1
Accession:XM_017002107
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRFIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT*

Gene Symbol:NMNAT1
Accession:XM_047428076
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRFIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT*

Gene Symbol:NMNAT1
Accession:XM_011541971
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRFIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKGL*

Gene Symbol:NMNAT1
Accession:XM_047428080
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRFIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA
*

Gene Symbol:NMNAT1
Accession:NM_001297779
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRFIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA
*

Gene Symbol:NMNAT1
Accession:XM_017002108
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRFIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAASS*

Gene Symbol:NMNAT1
Accession:NM_001297778
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRFIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT*

Gene Symbol:NMNAT1
Accession:NM_022787
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRFIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLL
ESFAVPNLWKSEDITQIVANYGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT*

Gene Symbol:NMNAT1
Accession:XM_047428077
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGLIPAYHRFIMAELATKNSKWV
EVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTLERPGRKRKWTETQDSSQKKSLEPKTKDGVSLYHPGWSAVA
*
Variant Samples
Additional References at PubMed
PMID:22842230   PMID:28492532   PMID:32037395  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001090801 CLINVAR
  RCV001862682 CLINVAR
dbSNP (RS) rs756903689 CLINVAR
MedGen C1837873 CLINVAR
  C3661900 CLINVAR
NCBI Gene NMNAT1 CLINVAR
OMIM 608553 CLINVAR
  608700 CLINVAR