RGD:14696528 Rat Genome Database

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Variant: RGD:14696528 -  Homo sapiens

RGD ID: 14696528
RS ID: rs753347128
ClinVar ID: CV622105
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHD7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 61,763,180
GRCh38 8 60,850,621
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017780.4:c.5533G>A
LRG_176:g.176842G>A
NG_007009.1:g.176842G>A
NC_000008.11:g.60850621G>A
More... 		09/21/2019 intron variant uncertain significance 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHD7
Accession:XM_017013613
Location:EXON

Gene Symbol:CHD7
Accession:XM_047421946
Location:EXON

Gene Symbol:CHD7
Accession:XM_011517553
Location:EXON

Gene Symbol:CHD7
Accession:XM_047421947
Location:EXON

Gene Symbol:CHD7
Accession:XM_017013612
Location:EXON

Gene Symbol:CHD7
Accession:XM_047421945
Location:EXON

Gene Symbol:CHD7
Accession:NM_017780
Location:EXON

Gene Symbol:CHD7
Accession:XM_011517555
Location:EXON

Gene Symbol:CHD7
Accession:XM_011517554
Location:EXON

Gene Symbol:CHD7
Accession:NM_001316690
Location:INTRON

Gene Symbol:CHD7
Accession:XM_011517560
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25472840   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000782253 CLINVAR
  RCV001204412 CLINVAR
dbSNP (RS) rs753347128 CLINVAR
MedGen C0265354 CLINVAR
  C3661900 CLINVAR
NCBI Gene CHD7 CLINVAR
OMIM 214800 CLINVAR
  608892 CLINVAR
SNOMED CT 47535005 CLINVAR