RGD:156023011 Rat Genome Database

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Variant: RGD:156023011 -  Homo sapiens

RGD ID: 156023011
ClinVar ID: CV2223379
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HYI  LOC129930381  SZT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,919,442
GRCh38 1 43,453,771
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001365999.1:c.*3291G>A
NM_015284.4:c.*3291G>A
NM_001174052.1:c.23C>T
NM_001190880.3:c.23C>T
More... 		08/12/2021 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SZT2
Accession:NM_015284
Location:3UTRS;EXON

Gene Symbol:SZT2
Accession:NM_001365999
Location:3UTRS;EXON

Gene Symbol:HYI
Accession:NM_001330526
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLRFSDNLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLVLINTPPGDQEKGEMGLGAVP
GRQAAFREGLEQAVRSGHCLMGRKLSVPCKGAVARGGLVYLAAFLRLDMIHLMAGRVPQGADRIAVKAEMEAVFLENLRH
AAGVLAQEDLVGLLEPINTRITDPQYFLDTPQQAAAILQKVGRPNLQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQ
VPGRGEPSSPGELNFPYLFQLLEDEGYKGFVGCEYQPRGDTVEGLSWLRSYWDRRGHPEAGQ*

Gene Symbol:HYI
Accession:NM_031207
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLRFSDNLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLVLINTPPGDQEKGEMGLGAVP
GRQAAFREGLEQAVRYAKALGCPRIHLMAGRVPQGADRIAVKAEMEAVFLENLRHAAGVLAQEDLVGLLEPINTRITDPQ
YFLDTPQQAAAILQKVGRPNLQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQVPGRGEPSSPGELNFPYLFQLLEDE
GYKGFVG*

Gene Symbol:HYI
Accession:XM_047431340
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLRFSDNLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLVLINTPPGDQEKGEMGLGAVP
GRQAAFREGLEQAVRYAKALGCPRIHLMAGRVPQGADRIAVKAEMEAVFLENLRHAAGVLAQEDLVGLLEPINTRITDPQ
YFLDTPQQAAAILQKVGRPNLQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQVPGRGEPSSPGELNFPYLFQLLEDE
GYKGFVGSSARVAVKMGELLNPPH*

Gene Symbol:HYI
Accession:NM_001243526
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLRFSDNLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLVLINTPPGDQEKGEMGLGAVP
GRQAAFREGLEQAVRSGHCLMGRKLSVPCKGAVARGGLVYLAAFLRLDMIHLMAGRVPQGADRIAVKAEMEAVFLENLRH
AAGVLAQEDLVGLLEPINTRITDPQYFLDTPQQAAAILQKVGRPNLQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQ
VPGRGEPSSPGELNFPYLFQLLEDEGYKGFVG*

Gene Symbol:HYI
Accession:XM_047431342
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLRFSDNLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLVLINTPPGDQEKGEMGLGAVP
GRQAAFREGLEQAVRIHLMAGRVPQGADRIAVKAEMEAVFLENLRHAAGVLAQEDLVGLLEPINTRITDPQYFLDTPQQA
AAILQKVGRPNLQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQVPGRGEPSSPGELNFPYLFQLLEDEGYKGFVG*

Gene Symbol:HYI
Accession:NM_001190880
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLRFSDNLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLVLINTPPGDQEKGEMGLGAVP
GRQAAFREGLEQAVRYAKALGCPRIHLMAGRVPQGADRIAVKAEMEAVFLENLRHAAGVLAQEDLVGLLEPINTRITDPQ
YFLDTPQQAAAILQKVGRPNLQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQVPGRGEPSSPGELNFPYLFQLLEDE
GYKGFVGCEYQPRGDTVEGLSWLRSYWDRRGHPEAGQ*

Gene Symbol:HYI
Accession:XM_006710937
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLRFSDNLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLVLINTPPGDQEKGEMGLGAVP
GRQAAFREGLEQAVRSGHCLMGRKLSVPCKGAVARGGLVYLAAFLRLDMIHLMAGRVPQGADRIAVKAEMEAVFLENLRH
AAGVLAQEDLVGLLEPINTRITDPQYFLDTPQQAAAILQKVGRPNLQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQ
VPGRGEPSSPGELNFPYLFQLLEDEGYKGFVGSSARVAVKMGELLNPPH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004105972 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HYI CLINVAR
  LOC129930381 CLINVAR
  SZT2 CLINVAR
OMIM 615463 CLINVAR
  619128 CLINVAR