RGD:26914952 Rat Genome Database

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Variant: RGD:26914952 -  Homo sapiens

RGD ID: 26914952
RS ID: rs1805486327
ClinVar ID: CV851207
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHD7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 61,764,811
GRCh38 8 60,852,252
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001316690.1:c.1717-9977G>A
NM_017780.4:c.5894+5G>A
LRG_176:g.178473G>A
NG_007009.1:g.178473G>A
More... 		03/13/2019 intron variant likely pathogenic 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_047421945
Location:INTRON

Gene Symbol:CHD7
Accession:NM_017780
Location:INTRON

Gene Symbol:CHD7
Accession:XM_011517560
Location:INTRON

Gene Symbol:CHD7
Accession:XM_047421947
Location:INTRON

Gene Symbol:CHD7
Accession:XM_011517554
Location:INTRON

Gene Symbol:CHD7
Accession:NM_001316690
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_017013613
Location:INTRON

Gene Symbol:CHD7
Accession:XM_047421946
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001041025 CLINVAR
dbSNP (RS) rs1805486327 CLINVAR
MedGen C0265354 CLINVAR
NCBI Gene CHD7 CLINVAR
OMIM 214800 CLINVAR
  608892 CLINVAR
SNOMED CT 47535005 CLINVAR