RGD:13496672 Rat Genome Database

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Variant: RGD:13496672 -  Homo sapiens

RGD ID: 13496672
RS ID: rs370660188
ClinVar ID: CV458265
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RECQL4  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 145,741,282
GRCh38 8 144,515,898
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.144515898G>T
NC_000008.10:g.145741282G>T
NG_033083.1:g.2934G>T
LRG_277t1:c.1132-8C>A
More...
11/01/2022 intron variant likely benign|uncertain significance Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate; Craniosynostosis radial aplasia syndrome; Craniosynostosis with radial defects; Radial and patellar aplasia; Radial and patellar hypoplasia; Rapadilino syndrome; Rothmund-Thomson syndrome type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:
Accession:
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:NM_001413043
Location:5UTRS;INTRON

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

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

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

Gene Symbol:RECQL4
Accession:NM_004260
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422438
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422440
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422441
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422443
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422444
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422448
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413025
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413029
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413035
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413017
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413020
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413039
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413033
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413018
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413036
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413019
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413040
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413021
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413024
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413028
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413034
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413042
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413037
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413038
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413022
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413023
Location:INTRON

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

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

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000538010 CLINVAR
  RCV002060298 CLINVAR
dbSNP (RS) rs370660188 CLINVAR
MedGen C0265308 CLINVAR
NCBI Gene RECQL4 CLINVAR
OMIM 218600 CLINVAR
  266280 CLINVAR
  268400 CLINVAR
  603780 CLINVAR
SNOMED CT 77608001 CLINVAR