RGD:156080861 Rat Genome Database

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Variant: RGD:156080861 -  Homo sapiens

RGD ID: 156080861
ClinVar ID: CV2255973
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMN  LOC130056554  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 103,396,385
GRCh38 14 102,930,048
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_642t1:c.968G>C
NM_030943.4:c.968G>C
LRG_642:g.12393G>C
NG_008276.2:g.12393G>C
More... 		12/03/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AMN
Accession:NM_001425246
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSVLVQEGHAVSDMLLPLDGELVLASGAGFGVSDVGSHLDCGAGEPAVFRDSDRFSWHDPHLWRSGDEAPGLFFVDAER
VPCRHDDVFFPPSASFRVGLGPGASPVRVRSISALGRTFTRDEDLAVFLASRAGRLRFHGPGALSVGPEDCADPSGCVCG
NAEAQPWICAALLQPLGGRCPQAACHSALRPQGQCCDLCGAVVLLTHGPAFDLERYRARILDTFLGLPQYHGLQVAVSKV
PRSSRLREADTEIQVVLVENGPETGGAGPLARALLADVAENGEALGVLEATMRESGAHVWGSSAAGLAGGVAAAVLLALL
VLLVAPPLLRRAGRLRWRRHEAAAPAGAPLGFRNPVFDVTASEELPLPRRLSLVPKAAADSTSHSYFVNPLFAGAEAEA*

Gene Symbol:AMN
Accession:XM_011537203
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSVLVQEGHAVSDMLLPLDGELVLASGAGFGVSDVGSHLDCGAGEPAVFRDSDRFSWHDPHLWRSGDEAPGLFFVDAER
VPCRHDDVFFPPSASFRVGLGPGASPVRVRSISALGRTFTRDEDLAVFLASRAGRLRFHGPGALSVGPEDCADPSGCVCG
NAEAQPWICAALLQPLGGRCPQAACHSALRPQGQCCDLCGAVVLLTHGPAFDLERYRARILDTFLGLPQYHGLQVAVSKV
PRSSRLREADTEIQVVLVENGPETGGAGPLARALLADVAENGEALGVLEATMRESGAHVWGSSAAGLAGGVAAAVLLALL
VLLVAPPLLRRAGRLRWRRHEAAAPAGAPLGFRNPVFDVTASEELPLPRRLSLVPKAAADSTSHSYFVNPLFAGAEAEA*

Gene Symbol:AMN
Accession:NM_030943
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 323
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLGRVLLWLQLCALTQAVSKLWVPNTDFDVAANWSQNRTPCAGGAVEFPADKMVSVLVQEGHAVSDMLLPLDGELVLA
SGAGFGVSDVGSHLDCGAGEPAVFRDSDRFSWHDPHLWRSGDEAPGLFFVDAERVPCRHDDVFFPPSASFRVGLGPGASP
VRVRSISALGRTFTRDEDLAVFLASRAGRLRFHGPGALSVGPEDCADPSGCVCGNAEAQPWICAALLQPLGGRCPQAACH
SALRPQGQCCDLCGAVVLLTHGPAFDLERYRARILDTFLGLPQYHGLQVAVSKVPRSSRLREADTEIQVVLVENGPETGG
AGPLARALLADVAENGEALGVLEATMRESGAHVWGSSAAGLAGGVAAAVLLALLVLLVAPPLLRRAGRLRWRRHEAAAPA
GAPLGFRNPVFDVTASEELPLPRRLSLVPKAAADSTSHSYFVNPLFAGAEAEA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002783721 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene AMN CLINVAR
  LOC130056554 CLINVAR
OMIM 605799 CLINVAR