RGD:155924379 Rat Genome Database

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Variant: RGD:155924379 -  Homo sapiens

RGD ID: 155924379
ClinVar ID: CV2352063
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEMG1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 43,837,005
GRCh38 20 45,208,364
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003007.5:c.1067G>A
NC_000020.11:g.45208364G>A
NC_000020.10:g.43837005G>A
NM_003007.3:c.1067G>A
More... 		11/18/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SEMG1
Accession:NM_003007
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKPNIIFVLSLLLILEKQAAVMGQKGGSKGRLPSEFSQFPHGQKGQHYSGQKGKQQTESKGSFSIQYTYHVDANDHDQSR
KSQQYDLNALHKTTKSQRHLGGSQQLLHNKQEGRDHDKSKGHFHRVVIHHKGGKAHRGTQNPSQDQGNSPSGKGISSQYS
NTEERLWVHGLSKEQTSVSGAQKGRKQGGSQSSYVLQTEELVANKQQRETKNSHQNKGHYQNVVEVREEHSSKVQTSLCP
AHQDKLQHGSKDIFSTQDELLVYNKNQHQTKNLNQDQQHGRKANKISYQSSSTEERRLHYGENGVQKDVSQSSIYSQTEE
KAQGKSQKQITIPSQEQEHSQKANKISYQSSSTEEKRLHYGENGVQKDVSQRSIYSQTEKLVAGKSQIQAPNPKQEPWHG
ENAKGESGQSTNREQDLLSHEQKGRHQHGSHGGLDIVIIEQEDDSDRHLAQHLNNDRNPLFT*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004191158 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SEMG1 CLINVAR
OMIM 182140 CLINVAR