RGD:13210856 Rat Genome Database

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Variant: RGD:13210856 -  Homo sapiens

RGD ID: 13210856
RS ID: rs1057519641
ClinVar ID: CV424977
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMCHD1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 2,667,029
GRCh38 18 2,667,030
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_015295.3:c.423G>T
NG_031972.1:g.16144G>T
NC_000018.10:g.2667030G>T
NC_000018.9:g.2667029G>T
More... 		missense variant pathogenic <1 / 1 000 000 Arhinia choanal atresia microphthalmia; Arhinia, choanal atresia, and microphthalmia; ARHINIA, CHOANAL ATRESIA, MICROPHTHALMIA, AND HYPOGONADOTROPIC HYPOGONADISM; Bosma Henkin Christiansen syndrome; Congenital absence of nose and anterior nasopharynx
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMCHD1
Accession:XM_047437425
Location:5UTRS;EXON

Gene Symbol:SMCHD1
Accession:XM_047437427
Location:EXON

Gene Symbol:SMCHD1
Accession:XM_047437428
Location:EXON

Gene Symbol:SMCHD1
Accession:XM_011525642
Location:EXON

Gene Symbol:SMCHD1
Accession:XM_047437426
Location:EXON

Gene Symbol:SMCHD1
Accession:NM_015295
Location:EXON

Gene Symbol:SMCHD1
Accession:XM_047437429
Location:EXON

Gene Symbol:SMCHD1
Accession:XR_935055
Location:EXON;NON-CODING

Gene Symbol:SMCHD1
Accession:XR_001753172
Location:EXON;NON-CODING

Gene Symbol:SMCHD1
Accession:XR_007066135
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28067909  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000497003 CLINVAR
dbSNP (RS) rs1057519641 CLINVAR
MedGen C1863878 CLINVAR
NCBI Gene SMCHD1 CLINVAR
OMIM 603457 CLINVAR
  614982 CLINVAR
SNOMED CT 720511000 CLINVAR