RGD:28874745 Rat Genome Database

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Variant: RGD:28874745 -  Homo sapiens

RGD ID: 28874745
RS ID: rs199939219
ClinVar ID: CV880907
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX8  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 113,993,049
GRCh38 2 113,235,472
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.113235472A>C
NC_000002.11:g.113993049A>C
NM_003466.4:c.1009T>G
NM_013953.4:c.777+6079T>G
More... 		12/07/2021 intron variant likely benign|uncertain significance AllHighlyPenetrant; 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_013952
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 310
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSK
PKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDNDTVPSVSSINRIIRTKVQQPFNLPMDSCVATKSLSPGHTLI
PSSAVTPPESPQSDSLGSTYSINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPF
ERQHYPEAYASPSHTKGEQGLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVAAPPFWICSKSAPGSRPSMPFP
MLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAWWQEVNTLAMPMATPPTPPTARPGASPTPAC*

Gene Symbol:PAX8
Accession:NM_003466
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSK
PKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDNDTVPSVSSINRIIRTKVQQPFNLPMDSCVATKSLSPGHTLI
PSSAVTPPESPQSDSLGSTYSINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPF
ERQHYPEAYASPSHTKGEQGLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSST
PSSLSSSAFLDLQQVGAGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEY
SGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL*

Gene Symbol:PAX8
Accession:NM_013992
Location:INTRON

Gene Symbol:PAX8
Accession:NM_013953
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28444304   PMID:29159607   PMID:30222900  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001133551 CLINVAR
  RCV002509615 CLINVAR
  RCV002556863 CLINVAR
dbSNP (RS) rs199939219 CLINVAR
MedGen C0950123 CLINVAR
  C1869118 CLINVAR
  CN169374 CLINVAR
NCBI Gene PAX8 CLINVAR
OMIM 167415 CLINVAR
  218700 CLINVAR