RGD:127321652 Rat Genome Database

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Variant: RGD:127321652 -  Homo sapiens

RGD ID: 127321652
RS ID: rs140009168
ClinVar ID: CV1153335
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATF6  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 161,833,110
GRCh38 1 161,863,320
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007348.4:c.1719+8C>A
NG_029773.1:g.102077C>A
NC_000001.11:g.161863320C>A
NC_000001.10:g.161833110C>A
 11/24/2020 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ATF6
Accession:XM_011509310
Location:INTRON

Gene Symbol:ATF6
Accession:XM_011509309
Location:INTRON

Gene Symbol:ATF6
Accession:XM_047449542
Location:INTRON

Gene Symbol:ATF6
Accession:NM_001410890
Location:INTRON

Gene Symbol:ATF6
Accession:NM_007348
Location:INTRON

Gene Symbol:ATF6
Accession:XM_011509308
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001523160 CLINVAR
dbSNP (RS) rs140009168 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ATF6 CLINVAR
OMIM 605537 CLINVAR