rs764996429 Rat Genome Database

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Variant: rs764996429 -  Homo sapiens

RGD ID: 150536299
RS ID: rs764996429
ClinVar ID: CV1302815
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RECQL  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 21,652,556
GRCh38 12 21,499,622
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_002907.4:c.-45-7T>G
NM_032941.3:c.-45-7T>G
NC_000012.12:g.21499622A>C
NC_000012.11:g.21652556A>C
 03/03/2020 intron variant uncertain significance none provided

Gene Symbol:RECQL
Accession:XM_005253464
Location:5UTRS;INTRON

Gene Symbol:RECQL
Accession:NM_032941
Location:5UTRS;INTRON

Gene Symbol:RECQL
Accession:XM_005253463
Location:5UTRS;INTRON

Gene Symbol:RECQL
Accession:XM_005253462
Location:5UTRS;INTRON

Gene Symbol:RECQL
Accession:XM_047429300
Location:5UTRS;INTRON

Gene Symbol:RECQL
Accession:XM_047429299
Location:5UTRS;INTRON

Gene Symbol:RECQL
Accession:NM_002907
Location:5UTRS;INTRON

Gene Symbol:RECQL
Accession:XM_005253461
Location:5UTRS;INTRON

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Database
Acc Id
Source(s)
ClinVar RCV001761442 CLINVAR
dbSNP (RS) rs764996429 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RECQL CLINVAR
OMIM 600537 CLINVAR