RGD:127241118 Rat Genome Database

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Variant: RGD:127241118 -  Homo sapiens

RGD ID: 127241118
RS ID: rs1047944999
ClinVar ID: CV1075498
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHD7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 61,750,823
GRCh38 8 60,838,264
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007009.1:g.164485C>T
NC_000008.11:g.60838264C>T
NC_000008.10:g.61750823C>T
NM_001316690.1:c.1717-23965C>T
More... 		02/18/2020 intron variant likely benign 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHD7
Accession:XM_011517554
Location:INTRON

Gene Symbol:CHD7
Accession:XM_017013612
Location:INTRON

Gene Symbol:CHD7
Accession:XM_011517553
Location:INTRON

Gene Symbol:CHD7
Accession:XM_011517555
Location:INTRON

Gene Symbol:CHD7
Accession:XM_011517560
Location:INTRON

Gene Symbol:CHD7
Accession:NM_017780
Location:INTRON

Gene Symbol:CHD7
Accession:XM_017013613
Location:INTRON

Gene Symbol:CHD7
Accession:XM_047421947
Location:INTRON

Gene Symbol:CHD7
Accession:XM_047421945
Location:INTRON

Gene Symbol:CHD7
Accession:XM_047421946
Location:INTRON

Gene Symbol:CHD7
Accession:NM_001316690
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001397922 CLINVAR
dbSNP (RS) rs1047944999 CLINVAR
MedGen C0265354 CLINVAR
NCBI Gene CHD7 CLINVAR
OMIM 214800 CLINVAR
  608892 CLINVAR
SNOMED CT 47535005 CLINVAR