RGD:28869581 Rat Genome Database

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Variant: RGD:28869581 -  Homo sapiens

RGD ID: 28869581
RS ID: rs1691352861
ClinVar ID: CV882786
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX8  PAX8-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 114,004,325
GRCh38 2 113,246,748
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012384.1:g.37174C>G
NC_000002.12:g.113246748G>C
NC_000002.11:g.114004325G>C
NM_013952.4:c.191+6C>G
More... 		01/13/2018 intron variant uncertain significance Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAX8
Accession:NM_003466
Location:INTRON

Gene Symbol:PAX8
Accession:NM_013952
Location:INTRON

Gene Symbol:PAX8
Accession:NM_013992
Location:INTRON

Gene Symbol:PAX8
Accession:NM_013953
Location:INTRON

Gene Symbol:PAX8-AS1
Accession:NR_015377
Location:INTRON;NON-CODING

Gene Symbol:PAX8-AS1
Accession:NR_047570
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001130724 CLINVAR
dbSNP (RS) rs1691352861 CLINVAR
MedGen C1869118 CLINVAR
NCBI Gene PAX8 CLINVAR
  PAX8-AS1 CLINVAR
OMIM 167415 CLINVAR
  218700 CLINVAR