RGD:15182197 Rat Genome Database

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Variant: RGD:15182197 -  Homo sapiens

RGD ID: 15182197
RS ID: rs73135067
ClinVar ID: CV777608
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAP3K1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 56,155,751
GRCh38 5 56,859,924
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005921.2:c.834+9A>G
NG_031884.1:g.49852A>G
NC_000005.10:g.56859924A>G
NC_000005.9:g.56155751A>G
More... 		11/15/2021 intron variant benign|likely benign 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED; 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED; AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MAP3K1
Accession:XM_047417220
Location:INTRON

Gene Symbol:MAP3K1
Accession:XM_047417218
Location:INTRON

Gene Symbol:MAP3K1
Accession:NM_005921
Location:INTRON

Gene Symbol:MAP3K1
Accession:XM_047417219
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000952159 CLINVAR
  RCV001818978 CLINVAR
  RCV003915794 CLINVAR
dbSNP (RS) rs73135067 CLINVAR
MedGen C3151064 CLINVAR
  CN169374 CLINVAR
NCBI Gene MAP3K1 CLINVAR
OMIM 600982 CLINVAR
  613762 CLINVAR