RGD:155951544 Rat Genome Database

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Variant: RGD:155951544 -  Homo sapiens

RGD ID: 155951544
ClinVar ID: CV2309693
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATAD3A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 1,452,616
GRCh38 1 1,517,236
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001170535.3:c.283-75G>C
NM_018188.5:c.352G>C
NM_001170536.3:c.46-75G>C
NG_053035.1:g.10094G>C
More... 		09/27/2022 intron variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2309693Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
Gene Symbol:ATAD3A
Accession:NM_018188
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAKAARELEHSRYAKDALNLAQM
QEQTLQLEQQSKLKMRLEALSLLHTLVWAWSLCRAGALQTQERLSGSASPEQVPAGECCALQEYEAAVEQLKSEQIRAQA
EERRKTLSEETRQHQARAQYQDKLARQRYEDQLKQQQLLNEENLRKQEESVQKQEAMRRATVEREMELRHKNEMLRVEAE
ARARAKAERENADIIREQIRLKAAEHRQTVLESIRTAGTLFGEGFRAFVTDWDKVTATVAGLTLLAVGVYSAKNATLVAG
RFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVVLSPSLEARVRDIAIATRNTKKNRSLYRNILMYG
PPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWANTSRRGLLLFVDEADAFLRKRATEKISEDLRAT
LNAFLYRTGQHSNKFMLVLASNQPEQFDWAINDRINEMVHFDLPGQEERERLVRMYFDKYVLKPATEGKQRLKLAQFDYG
RKCSEVARLTEGMSGREIAQLAVSWQATAYASEDGVLTEAMMDTRVQDAVQQHQQKMCWLKAEGPGRGDEPSPS*

Gene Symbol:ATAD3A
Accession:NM_001170536
Location:INTRON

Gene Symbol:ATAD3A
Accession:XM_047424288
Location:INTRON

Gene Symbol:ATAD3A
Accession:XM_047424290
Location:INTRON

Gene Symbol:ATAD3A
Accession:XM_047424289
Location:INTRON

Gene Symbol:ATAD3A
Accession:NM_001170535
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV002905138 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ATAD3A CLINVAR
OMIM 612316 CLINVAR