RGD:12883073 Rat Genome Database

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Variant: RGD:12883073 -  Homo sapiens

RGD ID: 12883073
RS ID: rs373192242
ClinVar ID: CV396311
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RECQL4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 145,740,527
GRCh38 8 144,515,143
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_004260.3:c.1483+7G>A
LRG_277t1:c.1483+7G>A
NM_004260.4:c.1483+7G>A
LRG_277:g.7684G>A
More... 		11/23/2020 intron variant likely benign neonatal <1 / 1 000 000 Craniosynostosis radial aplasia syndrome; Craniosynostosis with radial defects
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:RECQL4
Accession:XM_047422444
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413039
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413037
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413033
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422438
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413029
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413027
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413043
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422448
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413025
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413032
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413017
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413038
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422443
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413020
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413018
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413036
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413028
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413030
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413021
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413024
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413019
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413034
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413042
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413040
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413022
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_004260
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422440
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413035
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413031
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413023
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422441
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413041
Location:INTRON

Gene Symbol:RECQL4
Accession:NR_182092
Location:INTRON;NON-CODING

Gene Symbol:RECQL4
Accession:NR_182090
Location:INTRON;NON-CODING

Gene Symbol:RECQL4
Accession:NR_182091
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000460885 CLINVAR
dbSNP (RS) rs373192242 CLINVAR
MedGen C0265308 CLINVAR
NCBI Gene RECQL4 CLINVAR
OMIM 218600 CLINVAR
  603780 CLINVAR
SNOMED CT 77608001 CLINVAR