RGD:13468943 Rat Genome Database

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Variant: RGD:13468943 -  Homo sapiens

RGD ID: 13468943
RS ID: rs942704068
ClinVar ID: CV457682
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130001411  RECQL4  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 145,743,023
GRCh38 8 144,517,639
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004260.3:c.85-4A>T
NM_004260.4:c.85-4A>T
LRG_277:g.5188A>T
NG_016430.2:g.5188A>T
More... 		10/28/2020 intron variant likely benign Craniosynostosis radial aplasia syndrome; Craniosynostosis with radial defects
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RECQL4
Accession:NM_001413028
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413034
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413030
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413037
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413038
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413021
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413031
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413022
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413043
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413042
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413040
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413024
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413041
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413023
Location:5UTRS;EXON

Gene Symbol:RECQL4
Accession:NM_001413035
Location:5UTRS;INTRON

Gene Symbol:RECQL4
Accession:NM_001413032
Location:5UTRS;INTRON

Gene Symbol:RECQL4
Accession:NM_001413027
Location:5UTRS;INTRON

Gene Symbol:RECQL4
Accession:XM_047422443
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422444
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422448
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413025
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413029
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413020
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422438
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_004260
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422441
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413019
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413017
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413036
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413033
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422440
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413039
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413018
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000544814 CLINVAR
  RCV003942757 CLINVAR
dbSNP (RS) rs942704068 CLINVAR
MedGen C0265308 CLINVAR
NCBI Gene LOC130001411 CLINVAR
  RECQL4 CLINVAR
OMIM 218600 CLINVAR
  603780 CLINVAR
SNOMED CT 77608001 CLINVAR