RGD:156101062 Rat Genome Database

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Variant: RGD:156101062 -  Homo sapiens

RGD ID: 156101062
ClinVar ID: CV2367598
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GOLGA6A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 74,367,295
GRCh38 15 74,074,954
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001038640.2:c.895C>G
NC_000015.10:g.74074954G>C
NC_000015.9:g.74367295G>C
NP_001033729.2:p.Gln299Glu
 09/21/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GOLGA6A
Accession:NM_001038640
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWPQPYLPPHPMMLEESRQNKLAAAKKKLKEYQQRKSPGIPAGAKTKKKKTDSSPETTTSGGCHSPGDSQYQELAVALES
SSVTISQLNENIESLKQQKKQVEHQLEEAKKTNNEIHKAQMERLETINILTLEKADLKTTLYHTKRAARHFEEESKDLAG
RLQYSLQRIQELERALCAVSTQQQEEDRSSSCREAVLQRWLQQTIKERALLNAHVTQVTESLKQVQLERDEYAKHIKGER
ARWQERMWKMSVEARTLKEEKKRDIHRIQELERSLSELKNQMAEPPSLAPPAVTSVVEELQDEAKHLRQEVEGLEGKLQS
QVENNQALSLLSKEQKQRLQEQEEMLREQEAQRVREQERLCEQNERLREQQKTLQEQGERLRKQEQRLRKQEERLRKEEE
RLQKQEKRLWDQEERLWKKEERLQKQEERLALSQNHKLDKQLAEPQCSFEDLNNEKKSALQLEQQVKELQEKLDEEHLEA
ASHQNQQLETQLSLVALPGEGDGGQHLDSEEEEAPRPTPNIPEDLESREATSSFMDLPKEKADGTEQVERRELGFVQPSG
VTDGMRESFTVYESQGAVPNTRHQEMEDVIRLAQKEEEMKVKLLELQELVLPLVGNHEGHGKFLIAAQNPADEPTPGAPA
PQELGAAGEQDVFYEVSLDNNVEPAPGAAREGSPHDNPTVQQIVQLSPVMQDT*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002661980 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene GOLGA6A CLINVAR
OMIM 610288 CLINVAR