RGD:401728817 Rat Genome Database

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Variant: RGD:401728817 -  Homo sapiens

RGD ID: 401728817
ClinVar ID: CV2693846
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HYI  LOC127268940  SZT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 43,916,952
GRCh38 1 43,451,281
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001243526.2:c.*29G>A
NM_001190880.3:c.791G>A
NM_031207.6:c.*29G>A
NM_001365999.1:c.*801C>T
More... 		03/27/2023 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_031207
Location:3UTRS;EXON

Gene Symbol:HYI
Accession:NM_001243526
Location:3UTRS;EXON

Gene Symbol:HYI
Accession:XM_047431342
Location:3UTRS;EXON

Gene Symbol:HYI
Accession:NM_001190880
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLRFSANLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLVLINTPPGDQEKGEMGLGAVP
GRQAAFREGLEQAVRYAKALGCPRIHLMAGRVPQGADRIAVKAEMEAVFLENLRHAAGVLAQEDLVGLLEPINTRITDPQ
YFLDTPQQAAAILQKVGRPNLQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQVPGRGEPSSPGELNFPYLFQLLEDE
GYKGFVGCEYQPRGDTVEGLSWLLSYWDRRGHPEAGQ*

Gene Symbol:HYI
Accession:NM_001330526
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLRFSANLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLVLINTPPGDQEKGEMGLGAVP
GRQAAFREGLEQAVRSGHCLMGRKLSVPCKGAVARGGLVYLAAFLRLDMIHLMAGRVPQGADRIAVKAEMEAVFLENLRH
AAGVLAQEDLVGLLEPINTRITDPQYFLDTPQQAAAILQKVGRPNLQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQ
VPGRGEPSSPGELNFPYLFQLLEDEGYKGFVGCEYQPRGDTVEGLSWLLSYWDRRGHPEAGQ*

Gene Symbol:HYI
Accession:XM_006710937
Location:INTRON

Gene Symbol:HYI
Accession:XM_047431340
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004300152 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HYI CLINVAR
  SZT2 CLINVAR
OMIM 615463 CLINVAR
  619128 CLINVAR