RGD:8565726 Rat Genome Database

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Variant: RGD:8565726 -  Homo sapiens

RGD ID: 8565726
RS ID: rs104894162
ClinVar ID: CV31662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 8,106,006
GRCh38 10 8,064,043
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_015859.1:g.14340C>T
NC_000010.11:g.8064043C>T
NC_000010.10:g.8106006C>T
NP_001002295.1:p.Arg277Ter
More... 		11/07/2023 nonsense|stop-gain pathogenic childhood <1 / 1 000 000 Barakat syndrome; HDR syndrome; Hypoparathyroidism, sensorineural deafness, and renal dysplasia; HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME; Nephrosis, nerve deafness, and hypoparathyroidism; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATA3
Accession:XM_005252442
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 277
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHH
GSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKD
VSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTEGRECVNCGATSTPLWR*DGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCAN
CQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRH
MSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG*

Gene Symbol:GATA3
Accession:XM_047425044
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHH
GSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKD
VSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTGRECVNCGATSTPLWR*DGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCANC
QTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRHM
SSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG*

Gene Symbol:GATA3
Accession:XM_005252443
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 277
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHH
GSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKD
VSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTEGRECVNCGATSTPLWR*DGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCAN
CQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRH
MSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG*

Gene Symbol:GATA3
Accession:NM_002051
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHH
GSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKD
VSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTGRECVNCGATSTPLWR*DGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCANC
QTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRHM
SSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG*

Gene Symbol:GATA3
Accession:XM_047425045
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHH
GSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKD
VSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTGRECVNCGATSTPLWR*DGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCANC
QTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRHM
SSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG*

Gene Symbol:GATA3
Accession:NM_001002295
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 277
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHH
GSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKD
VSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTEGRECVNCGATSTPLWR*DGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCAN
CQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRNRKMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRH
MSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG*
Variant Samples
Additional References at PubMed
PMID:10935639   PMID:14985365   PMID:21242646   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018102 CLINVAR
  RCV003556041 CLINVAR
dbSNP (RS) rs104894162 CLINVAR
MedGen C1840333 CLINVAR
  C3661900 CLINVAR
NCBI Gene GATA3 CLINVAR
OMIM 131320 CLINVAR
  146255 CLINVAR
OMIM Allele 131320.0005 CLINVAR
SNOMED CT 724282009 CLINVAR