RGD:8565729 Rat Genome Database

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Variant: RGD:8565729 -  Homo sapiens

RGD ID: 8565729
RS ID: rs104894164
ClinVar ID: CV31665
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA3  LOC127817204  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 8,115,750
GRCh38 10 8,073,787
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.24084C>T
NC_000010.11:g.8073787C>T
NC_000010.10:g.8115750C>T
NP_001002295.1:p.Arg367Ter
More... 		09/02/2022 nonsense|stop-gain pathogenic|likely 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_047425044
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHH
GSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKD
VSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCANC
QTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRN*KMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRHM
SSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG*

Gene Symbol:GATA3
Accession:NM_001002295
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHH
GSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKD
VSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTEGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCAN
CQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRN*KMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRH
MSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG*

Gene Symbol:GATA3
Accession:XM_047425045
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHH
GSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKD
VSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCANC
QTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRN*KMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRHM
SSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG*

Gene Symbol:GATA3
Accession:NM_002051
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHH
GSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKD
VSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCANC
QTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRN*KMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRHM
SSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG*

Gene Symbol:GATA3
Accession:XM_005252443
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHH
GSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKD
VSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTEGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCAN
CQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRN*KMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRH
MSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG*

Gene Symbol:GATA3
Accession:XM_005252442
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHVPPYYGNSVRATVQRYPPTHH
GSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKTSIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKD
VSPDPSLSTPGSAGSARQDEKECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTEGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTSCAN
CQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEGIQTRN*KMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRH
MSSLSHISPFSHSSHMLTTPTPMHPPSSLSFGPHHPSSMVTAMG*
Variant Samples
Additional References at PubMed
PMID:11389161   PMID:19253381   PMID:21120445   PMID:25137426   PMID:25741868   PMID:26316437   PMID:28492532   PMID:30534854  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018105 CLINVAR
  RCV000760379 CLINVAR
dbSNP (RS) rs104894164 CLINVAR
MedGen C1840333 CLINVAR
  C3661900 CLINVAR
NCBI Gene GATA3 CLINVAR
OMIM 131320 CLINVAR
  146255 CLINVAR
OMIM Allele 131320.0008 CLINVAR
SNOMED CT 724282009 CLINVAR