RGD:8560292 Rat Genome Database

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Variant: RGD:8560292 -  Homo sapiens

RGD ID: 8560292
RS ID: rs104893859
ClinVar ID: CV23126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PITX2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 111,539,825
GRCh38 4 110,618,669
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_007120.1:g.23684G>C
NC_000004.12:g.110618669C>G
NC_000004.11:g.111539825C>G
NM_001204399.1:c.272G>C
More... 		06/23/2022 missense|missense variant pathogenic|likely pathogenic neonatal/infancy 1-9 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PITX2
Accession:NM_001204399
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METNCRKLVSACVQLEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTE
ARVRVWFKNRPAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLS
SQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRL
KAKQHSSFGYASVQNPASNLSACQYAVDRPV*

Gene Symbol:PITX2
Accession:XM_024454090
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTREEIAVWTNLTEARVRVWFKNRPAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWAAKGLTSASLST
KSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPY
VYRDTCNSSLASLRLKAKQHSSFGYASVQNPASNLSACQYAVDRPV*

Gene Symbol:PITX2
Accession:NM_001204398
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGANEKDKSQQGKNEDVGAEDPS
KKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRPAKWRKRERNQQAELCKNGFGPQF
NGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLN
SLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQNPASNLSACQYAVDRPV*

Gene Symbol:PITX2
Accession:NM_153426
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGANEKDKSQQGKNEDVGAEDPS
KKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRPAKWRKRERNQQAELCKNGFGPQF
NGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLN
SLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQNPASNLSACQYAVDRPV*

Gene Symbol:PITX2
Accession:NM_000325
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNCMKGPLHLEHRAAGTKLSAVSSSSCHHPQPLAMASVLAPGQPRSLDSSKHRLEVHTISDTSSPEAAEKDKSQQGKNED
VGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRPAKWRKRERNQQAELCK
NGFGPQFNGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTG
VPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQNPASNLSACQYAV
DRPV*

Gene Symbol:PITX2
Accession:NM_001204397
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGANEKDKSQQGKNEDVGAEDPS
KKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRPAKWRKRERNQQAELCKNGFGPQF
NGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLN
SLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQNPASNLSACQYAVDRPV*

Gene Symbol:PITX2
Accession:NM_153427
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METNCRKLVSACVQLEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTE
ARVRVWFKNRPAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLS
SQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRL
KAKQHSSFGYASVQNPASNLSACQYAVDRPV*
Variant Samples
Additional References at PubMed
PMID:8944018   PMID:15895993   PMID:25741868   PMID:35882526  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000008555 CLINVAR
  RCV001266803 CLINVAR
dbSNP (RS) rs104893859 CLINVAR
MedGen C0950123 CLINVAR
  C3714873 CLINVAR
NCBI Gene PITX2 CLINVAR
OMIM 180500 CLINVAR
  601542 CLINVAR
OMIM Allele 601542.0005 CLINVAR