RGD:127271579 Rat Genome Database

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Variant: RGD:127271579 -  Homo sapiens

RGD ID: 127271579
RS ID: rs1450213881
ClinVar ID: CV1094540
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHFR  LOC127403256  MSH3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 79,950,693
GRCh38 5 80,654,874
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000791.4:c.-385A>G
NM_001290357.2:c.-385A>G
NM_001290354.2:c.-491A>G
NM_002439.5:c.147T>C
More... 		02/01/2024 5 prime utr variant likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DHFR
Accession:NM_001290357
Location:5UTRS;EXON

Gene Symbol:DHFR
Accession:NM_001290354
Location:5UTRS;EXON

Gene Symbol:DHFR
Accession:NM_000791
Location:5UTRS;EXON

Gene Symbol:MSH3
Accession:NM_002439
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRRKPASGGLAASSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVDPGAAAAAAAAAAAAPPAPPAPAFPPQLPPHIA
TEIDRRKKRPLENDGPVKKKVKKVQQKEGGSDLGMSGNSEPKKCLRTRNVSKSLEKLKEFCCDSALPQSRVQTESLQERF
AVLPKCTDFDDISLLHAKNAVSSEDSKRQINQKDTTLFDLSQFGSSNTSHENLQKTASKSANKRSKSIYTPLELQYIEMK
QQHKDAVLCVECGYKYRFFGEDAEIAARELNIYCHLDHNFMTASIPTHRLFVHVRRLVAKGYKVGVVKQTETAALKAIGD
NRSSLFSRKLTALYTKSTLIGEDVNPLIKLDDAVNVDEIMTDTSTSYLLCISENKENVRDKKKGNIFIGIVGVQPATGEV
VFDSFQDSASRSELETRMSSLQPVELLLPSALSEQTEALIHRATSVSVQDDRIRVERMDNIYFEYSHAFQAVTEFYAKDT
VDIKGSQIISGIVNLEKPVICSLAAIIKYLKEFNLEKMLSKPENFKQLSSKMEFMTINGTTLRNLEILQNQTDMKTKGSL
LWVLDHTKTSFGRRKLKKWVTQPLLKLREINARLDAVSEVLHSESSVFGQIENHLRKLPDIERGLCSIYHKKCSTQEFFL
IVKTLYHLKSEFQAIIPAVNSHIQSDLLRTVILEIPELLSPVEHYLKILNEQAAKVGDKTELFKDLSDFPLIKKRKDEIQ
GVIDEIRMHLQEIRKILKNPSAQYVTVSGQEFMIEIKNSAVSCIPTDWVKVGSTKAVSRFHSPFIVENYRHLNQLREQLV
LDCSAEWLDFLEKFSEHYHSLCKAVHHLATVDCIFSLAKVAKQGDYCRPTVQEERKIVIKNGRHPVIDVLLGEQDQYVPN
NTDLSEDSERVMIITGPNMGGKSSYIKQVALITIMAQIGSYVPAEEATIGIVDGIFTRMGAADNIYKGQSTFMEELTDTA
EIIRKATSQSLVILDELGRGTSTHDGIAIAYATLEYFIRDVKSLTLFVTHYPPVCELEKNYSHQVGNYHMGFLVSEDESK
LDPGAAEQVPDFVTFLYQITRGIAARSYGLNVAKLADVPGEILKKAAHKSKELEGLINTKRKRLKYFAKLWTMHNAQDLQ
KWTEEFNMEETQTSLLH*

Gene Symbol:DHFR
Accession:NR_110936
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001441885 CLINVAR
  RCV002396019 CLINVAR
dbSNP (RS) rs1450213881 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene DHFR CLINVAR
  MSH3 CLINVAR
OMIM 126060 CLINVAR
  600887 CLINVAR
SNOMED CT 699346009 CLINVAR