RGD:401729316 Rat Genome Database

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Variant: RGD:401729316 -  Homo sapiens

RGD ID: 401729316
ClinVar ID: CV2683640
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLEU7  DLEU7-AS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 51,417,694
GRCh38 13 50,843,558
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198989.2:c.89G>T
NG_127821.1:g.1037C>A
NC_000013.11:g.50843558C>A
NC_000013.10:g.51417694C>A
More... 		05/05/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DLEU7
Accession:NM_198989
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPAPLVASISHQMVALQTLQLLQQEWG*GDGPVAPGNPRDPDHVSTAPARRSGPPRARPGPGREERGGGVGTRSRRTA
ARANSPEEEVVRGAEGGAELLPFPRDRGPCTLAQMAMRSALARVVDSTSELVSVEQTLLGPLQQERSFPIHLKLQLLANE
*

Gene Symbol:DLEU7
Accession:NM_001306135
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPAPLVASISHQMVALQTLQLLQQEWG*GDGPVAPGNPRDPDHVSTAPARRSGPPRARPGPGREERGGGVGTRSRRTA
ARANSPEEEVVRGAEGGAELLPFPRDRGPCTLAQMAMRSALARVVDSTSELVSVEQTLLGPLQQERSFPIHLKDSVEFRN
ICSHLALQIEGQQFDRDLNAAHQCLKTIVKKLIQSLANFPSDAHMVACASLRQILQNLPDI*

Gene Symbol:DLEU7-AS1
Accession:NR_046551
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004282559 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DLEU7 CLINVAR
  DLEU7-AS1 CLINVAR
OMIM 618634 CLINVAR