rs766928057 Rat Genome Database

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Variant: rs766928057 -  Homo sapiens

RGD ID: 152059243
RS ID: rs766928057
ClinVar ID: CV1540437
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERAC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 158,576,339
GRCh38 6 158,155,307
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032861.4:c.128+8G>A
NG_032889.1:g.17974G>A
NC_000006.12:g.158155307C>T
NC_000006.11:g.158576339C>T
11/15/2021 intron variant likely benign 3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MEGDEL syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERAC1
Accession:XM_006715586
Location:5UTRS;INTRON

Gene Symbol:SERAC1
Accession:XM_011536198
Location:INTRON

Gene Symbol:SERAC1
Accession:XM_024446573
Location:INTRON

Gene Symbol:SERAC1
Accession:XM_047419421
Location:INTRON

Gene Symbol:SERAC1
Accession:NM_032861
Location:INTRON

Gene Symbol:SERAC1
Accession:NR_073096
Location:INTRON;NON-CODING

Gene Symbol:SERAC1
Accession:XR_007059349
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002109908 CLINVAR
dbSNP (RS) rs766928057 CLINVAR
MedGen C4040739 CLINVAR
NCBI Gene SERAC1 CLINVAR
OMIM 614725 CLINVAR
  614739 CLINVAR