RGD:156253358 Rat Genome Database

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Variant: RGD:156253358 -  Homo sapiens

RGD ID: 156253358
ClinVar ID: CV2041158
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DMXL2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 51,747,333
GRCh38 15 51,455,136
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378460.1:c.6519+15A>G
NM_001174117.3:c.6630+15A>G
NM_001378459.1:c.8316+15A>G
NM_015263.5:c.8538+15A>G
More... 		01/16/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DMXL2
Accession:NM_001174116
Location:INTRON

Gene Symbol:DMXL2
Accession:NM_015263
Location:INTRON

Gene Symbol:DMXL2
Accession:NM_001174117
Location:INTRON

Gene Symbol:DMXL2
Accession:NM_001378460
Location:INTRON

Gene Symbol:DMXL2
Accession:NM_001378458
Location:INTRON

Gene Symbol:DMXL2
Accession:NM_001378459
Location:INTRON

Gene Symbol:DMXL2
Accession:NM_001378457
Location:INTRON

Gene Symbol:DMXL2
Accession:NM_001378464
Location:INTRON

Gene Symbol:DMXL2
Accession:NM_001378462
Location:INTRON

Gene Symbol:DMXL2
Accession:NM_001378463
Location:INTRON

Gene Symbol:DMXL2
Accession:NM_001378461
Location:INTRON

Gene Symbol:DMXL2
Accession:XM_047432317
Location:INTRON

Gene Symbol:DMXL2
Accession:XM_047432316
Location:INTRON

Gene Symbol:DMXL2
Accession:XM_047432318
Location:INTRON

Gene Symbol:DMXL2
Accession:XM_047432315
Location:INTRON

Gene Symbol:DMXL2
Accession:XM_047432314
Location:INTRON

Gene Symbol:DMXL2
Accession:XM_047432320
Location:INTRON

Gene Symbol:DMXL2
Accession:XM_047432319
Location:INTRON

Gene Symbol:DMXL2
Accession:XM_047432321
Location:INTRON

Gene Symbol:DMXL2
Accession:NR_165648
Location:INTRON;NON-CODING

Gene Symbol:DMXL2
Accession:NR_165649
Location:INTRON;NON-CODING

Gene Symbol:DMXL2
Accession:XR_007064435
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002806086 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DMXL2 CLINVAR
OMIM 612186 CLINVAR