RGD:8642705 Rat Genome Database

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Variant: RGD:8642705 -  Homo sapiens

RGD ID: 8642705
RS ID: rs71640288
ClinVar ID: CV101689
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHD7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 61,757,805
GRCh38 8 60,845,246
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
LRG_176:g.171467C>T
NG_007009.1:g.171467C>T
NC_000008.11:g.60845246C>T
NC_000008.10:g.61757805C>T
More... 		05/22/2019 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity neonatal charge syndrome is an autosomal dominant condition that occurs in 1 in 12,000 live births. AllHighlyPenetrant; CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES; CHARGE syndrome; Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation; Hall-Hittner syndrome; Hittner Hirsch Kreh syndrome; HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 5 WITH ANOSMIA; Hypogonadotropic hypogonadism 5 with or without anosmia; Kallmann syndrome 5; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHD7
Accession:XM_047421947
Location:INTRON

Gene Symbol:CHD7
Accession:XM_011517553
Location:INTRON

Gene Symbol:CHD7
Accession:XM_011517560
Location:INTRON

Gene Symbol:CHD7
Accession:XM_047421945
Location:INTRON

Gene Symbol:CHD7
Accession:XM_047421946
Location:INTRON

Gene Symbol:CHD7
Accession:XM_011517554
Location:INTRON

Gene Symbol:CHD7
Accession:NM_017780
Location:INTRON

Gene Symbol:CHD7
Accession:XM_017013613
Location:INTRON

Gene Symbol:CHD7
Accession:XM_017013612
Location:INTRON

Gene Symbol:CHD7
Accession:XM_011517555
Location:INTRON

Gene Symbol:CHD7
Accession:NM_001316690
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000081838 CLINVAR
  RCV000204649 CLINVAR
  RCV000270371 CLINVAR
  RCV001573056 CLINVAR
  RCV002311667 CLINVAR
  RCV002490719 CLINVAR
dbSNP (RS) rs71640288 CLINVAR
MedGen C0265354 CLINVAR
  C0950123 CLINVAR
  C3552553 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CHD7 CLINVAR
OMIM 214800 CLINVAR
  608892 CLINVAR
  612370 CLINVAR
SNOMED CT 47535005 CLINVAR