RGD:152981490 Rat Genome Database

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Variant: RGD:152981490 -  Homo sapiens

RGD ID: 152981490
RS ID: rs752974170
ClinVar ID: CV1676820
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HENMT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 109,198,218
GRCh38 1 108,655,596
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.253C>T
NC_000001.11:g.108655596G>A
NC_000001.10:g.109198218G>A
NP_653185.2:p.Arg85Ter
More... 		05/04/2022 nonsense uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:HENMT1
Accession:NM_001102592
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEENNLQCSSVVDGNFEEVPRETAIQFKPPLYRQRYQFVKNLVDQHEPKKVADLGCGDTSLLRLLKVNPCIELLVGVDIN
EDKL*WRGDSLAPFLGDFLKPRDLNLTITLYHGSVVERDSRLLGFDLITCIELIEHLDSGDLARFPEVVFGYLSPSMIVI
STPNSEFNPLFPSVTLRDSDHKFEWTRMEFQTWALYVANRYDYSVEFTGVGEPPAGAENVGYCTQIGIFRKNGGKATESC
LSEQHDQHVYKAVFTTSYPSLQQERFFKLVLVNEVSQQVESLRVSHLPRRKEQAGERGDKPKDIGGSKAPVPCFGPVFTE
VEKAKIENSPTPFCVGDKFFVPLQRLLAYPKLNRLCANEEMMRSVIADSIPLSSDGSAVVADLRNYFDEQFEF*

Gene Symbol:HENMT1
Accession:XM_005270411
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMEATARTKTEALVSCSSVVDGNFEEVPRETAIQFKPPLYRQRYQFVKNLVDQHEPKKVADLGCGDTSLLRLLKVNPCIE
LLVGVDINEDKL*WRGDSLAPFLGDFLKPRDLNLTITLYHGSVVERDSRLLGFDLITCIELIEHLDSGDLARFPEVVFGY
LSPSMIVISTPNSEFNPLFPSVTLRDSDHKFEWTRMEFQTWALYVANRYDYSVEFTGVGEPPAGAENVGYCTQIGIFRKN
GGKATESCLSEQHDQHVYKAVFTTSYPSLQQERFFKLVLVNEVSQQVESLRVSHLPRRKEQAGERGDKPKDIGGSKAPVP
CFGPVFTEVEKAKIENSPTPFCVGDKFFVPLQRLLAYPKLNRLCANEEMMRSVIADSIPLSSDGSAVVADLRNYFDEQFE
F*

Gene Symbol:HENMT1
Accession:NM_144584
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEENNLQCSSVVDGNFEEVPRETAIQFKPPLYRQRYQFVKNLVDQHEPKKVADLGCGDTSLLRLLKVNPCIELLVGVDIN
EDKL*WRGDSLAPFLGDFLKPRDLNLTITLYHGSVVERDSRLLGFDLITCIELIEHLDSGDLARFPEVVFGYLSPSMIVI
STPNSEFNPLFPSVTLRDSDHKFEWTRMEFQTWALYVANRYDYSVEFTGVGEPPAGAENVGYCTQIGIFRKNGGKATESC
LSEQHDQHVYKAVFTTSYPSLQQERFFKLVLVNEVSQQVESLRVSHLPRRKEQAGERGDKPKDIGGSKAPVPCFGPVFTE
VEKAKIENSPTPFCVGDKFFVPLQRLLAYPKLNRLCANEEMMRSVIADSIPLSSDGSAVVADLRNYFDEQFEF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002247886 CLINVAR
dbSNP (RS) rs752974170 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HENMT1 CLINVAR
OMIM 612178 CLINVAR