RGD:15158469 Rat Genome Database

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Variant: RGD:15158469 -  Homo sapiens

RGD ID: 15158469
RS ID: rs776259852
ClinVar ID: CV759005
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HECW2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 197,171,202
GRCh38 2 196,306,478
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001304840.3:c.1746+10G>A
NM_001348768.2:c.2814+10G>A
NM_020760.4:c.2814+10G>A
NG_053156.1:g.292215G>A
More... 		06/09/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HECW2
Accession:XM_047445194
Location:INTRON

Gene Symbol:HECW2
Accession:XM_006712648
Location:INTRON

Gene Symbol:HECW2
Accession:NM_001304840
Location:INTRON

Gene Symbol:HECW2
Accession:XM_024453020
Location:INTRON

Gene Symbol:HECW2
Accession:NM_001348768
Location:INTRON

Gene Symbol:HECW2
Accession:XM_047445196
Location:INTRON

Gene Symbol:HECW2
Accession:XM_024453021
Location:INTRON

Gene Symbol:HECW2
Accession:XM_047445198
Location:INTRON

Gene Symbol:HECW2
Accession:XM_006712646
Location:INTRON

Gene Symbol:HECW2
Accession:XM_047445197
Location:INTRON

Gene Symbol:HECW2
Accession:XM_047445195
Location:INTRON

Gene Symbol:HECW2
Accession:NM_020760
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000925077 CLINVAR
dbSNP (RS) rs776259852 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene HECW2 CLINVAR
OMIM 617245 CLINVAR