RGD:11580737 Rat Genome Database

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Variant: RGD:11580737 -  Homo sapiens

RGD ID: 11580737
RS ID: rs75444177
ClinVar ID: CV284003
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX8  PAX8-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 114,004,393
GRCh38 2 113,246,816
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.37106G>A
NC_000002.12:g.113246816C>T
NC_000002.11:g.114004393C>T
NP_003457.1:p.Arg43=
More... 		06/09/2018 synonymous variant benign|uncertain significance Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAX8
Accession:NM_003466
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVSPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSK
PKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDNDTVPSVSSINRIIRTKVQQPFNLPMDSCVATKSLSPGHTLI
PSSAVTPPESPQSDSLGSTYSINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPF
ERQHYPEAYASPSHTKGEQGLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVADPHSPFAIKQETPEVSSSSST
PSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLSGREMVGPTLPGYPPHIPTSGQGSYASSAIAGMVAGSEY
SGNAYGHTPYSSYSEAWRFPNSSLLSSPYYYSSTSRPSAPPTTATAFDHL*

Gene Symbol:PAX8
Accession:NM_013992
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVSPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSK
PKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDNDTVPSVSSINRIIRTKVQQPFNLPMDSCVATKSLSPGHTLI
PSSAVTPPESPQSDSLGSTYSINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPF
ERQHYPEAYASPSHTKGEQEVNTLAMPMATPPTPPTARPGASPTPAC*

Gene Symbol:PAX8
Accession:NM_013953
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVSPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSK
PKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDNDTVPSVSSINRIIRTKVQQPFNLPMDSCVATKSLSPGHTLI
PSSAVTPPESPQSDSLGSTYSINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPF
ERQHYPEAYASPSHTKGEQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAWWQEVNTLAMPMATPPTPPTARPGASPTPA
C*

Gene Symbol:PAX8
Accession:NM_013952
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHNSIRSGHGGLNQLGGAFVNGRPLPEVVRQRIVDLAHQGVSPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSK
PKVATPKVVEKIGDYKRQNPTMFAWEIRDRLLAEGVCDNDTVPSVSSINRIIRTKVQQPFNLPMDSCVATKSLSPGHTLI
PSSAVTPPESPQSDSLGSTYSINGLLGIAQPGSDKRKMDDSDQDSCRLSIDSQSSSSGPRKHLRTDAFSQHHLEPLECPF
ERQHYPEAYASPSHTKGEQGLYPLPLLNSTLDDGKATLTPSNTPLGRNLSTHQTYPVVAAPPFWICSKSAPGSRPSMPFP
MLPPCTGSSRARPSSQGERWWGPRCPDTHPTSPPADRAAMPPLPSQAWWQEVNTLAMPMATPPTPPTARPGASPTPAC*

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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000342663 CLINVAR
  RCV000870944 CLINVAR
dbSNP (RS) rs75444177 CLINVAR
MedGen C1869118 CLINVAR
  C3661900 CLINVAR
NCBI Gene PAX8 CLINVAR
  PAX8-AS1 CLINVAR
OMIM 167415 CLINVAR
  218700 CLINVAR