RGD:28903745 Rat Genome Database

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Variant: RGD:28903745 -  Homo sapiens

RGD ID: 28903745
RS ID: rs929190496
ClinVar ID: CV866398
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 8,116,642
GRCh38 10 8,074,679
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002051.3:c.*656G>A
NG_015859.1:g.24976G>A
NC_000010.11:g.8074679G>A
NC_000010.10:g.8116642G>A
More... 		01/15/2018 3 prime utr variant uncertain significance Barakat syndrome; HDR syndrome; Hypoparathyroidism, sensorineural deafness, and renal dysplasia; HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME; Nephrosis, nerve deafness, and hypoparathyroidism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATA3
Accession:XM_047425045
Location:3UTRS;EXON

Gene Symbol:GATA3
Accession:NM_001002295
Location:3UTRS;EXON

Gene Symbol:GATA3
Accession:XM_047425044
Location:3UTRS;EXON

Gene Symbol:GATA3
Accession:XM_005252442
Location:3UTRS;EXON

Gene Symbol:GATA3
Accession:XM_005252443
Location:3UTRS;EXON

Gene Symbol:GATA3
Accession:NM_002051
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001105276 CLINVAR
dbSNP (RS) rs929190496 CLINVAR
MedGen C1840333 CLINVAR
NCBI Gene GATA3 CLINVAR
OMIM 131320 CLINVAR
  146255 CLINVAR
SNOMED CT 724282009 CLINVAR