RGD:329400020 Rat Genome Database

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Variant: RGD:329400020 -  Homo sapiens

RGD ID: 329400020
ClinVar ID: CV2440395
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HENMT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 109,197,350
GRCh38 1 108,654,728
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001102592.2:c.386C>T
NM_144584.2:c.386C>T
NP_001096062.1:p.Thr129Met
NP_653185.2:p.Thr129Met
More... 		03/01/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:HENMT1
Accession:NM_144584
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEENNLQCSSVVDGNFEEVPRETAIQFKPPLYRQRYQFVKNLVDQHEPKKVADLGCGDTSLLRLLKVNPCIELLVGVDIN
EDKLRWRGDSLAPFLGDFLKPRDLNLTITLYHGSVVERDSRLLGFDLIMCIELIEHLDSGDLARFPEVVFGYLSPSMIVI
STPNSEFNPLFPSVTLRDSDHKFEWTRMEFQTWALYVANRYDYSVEFTGVGEPPAGAENVGYCTQIGIFRKNGGKATESC
LSEQHDQHVYKAVFTTSYPSLQQERFFKLVLVNEVSQQVESLRVSHLPRRKEQAGERGDKPKDIGGSKAPVPCFGPVFTE
VEKAKIENSPTPFCVGDKFFVPLQRLLAYPKLNRLCANEEMMRSVIADSIPLSSDGSAVVADLRNYFDEQFEF*

Gene Symbol:HENMT1
Accession:NM_001102592
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEENNLQCSSVVDGNFEEVPRETAIQFKPPLYRQRYQFVKNLVDQHEPKKVADLGCGDTSLLRLLKVNPCIELLVGVDIN
EDKLRWRGDSLAPFLGDFLKPRDLNLTITLYHGSVVERDSRLLGFDLIMCIELIEHLDSGDLARFPEVVFGYLSPSMIVI
STPNSEFNPLFPSVTLRDSDHKFEWTRMEFQTWALYVANRYDYSVEFTGVGEPPAGAENVGYCTQIGIFRKNGGKATESC
LSEQHDQHVYKAVFTTSYPSLQQERFFKLVLVNEVSQQVESLRVSHLPRRKEQAGERGDKPKDIGGSKAPVPCFGPVFTE
VEKAKIENSPTPFCVGDKFFVPLQRLLAYPKLNRLCANEEMMRSVIADSIPLSSDGSAVVADLRNYFDEQFEF*

Gene Symbol:HENMT1
Accession:XM_005270411
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMEATARTKTEALVSCSSVVDGNFEEVPRETAIQFKPPLYRQRYQFVKNLVDQHEPKKVADLGCGDTSLLRLLKVNPCIE
LLVGVDINEDKLRWRGDSLAPFLGDFLKPRDLNLTITLYHGSVVERDSRLLGFDLIMCIELIEHLDSGDLARFPEVVFGY
LSPSMIVISTPNSEFNPLFPSVTLRDSDHKFEWTRMEFQTWALYVANRYDYSVEFTGVGEPPAGAENVGYCTQIGIFRKN
GGKATESCLSEQHDQHVYKAVFTTSYPSLQQERFFKLVLVNEVSQQVESLRVSHLPRRKEQAGERGDKPKDIGGSKAPVP
CFGPVFTEVEKAKIENSPTPFCVGDKFFVPLQRLLAYPKLNRLCANEEMMRSVIADSIPLSSDGSAVVADLRNYFDEQFE
F*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004256334 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HENMT1 CLINVAR
OMIM 612178 CLINVAR