RGD:405107223 Rat Genome Database

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Variant: RGD:405107223 -  Homo sapiens

RGD ID: 405107223
ClinVar ID: CV2910095
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHD7  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 61,754,425
GRCh38 8 60,841,866
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_060250.2:p.Thr1555Asn
NP_060250.2:p.Thr1555Asn
LRG_176t1:c.4664C>A
NM_001316690.1:c.1717-20363C>A
More... 		08/30/2023 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003498507 CLINVAR
MedGen C0265354 CLINVAR
NCBI Gene CHD7 CLINVAR
OMIM 214800 CLINVAR
  608892 CLINVAR
SNOMED CT 47535005 CLINVAR