RGD:26903839 Rat Genome Database

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Variant: RGD:26903839 -  Homo sapiens

RGD ID: 26903839
RS ID: rs2064851919
ClinVar ID: CV852995
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MKKS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 10,388,258
GRCh38 20 10,407,610
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018848.3:c.1272+6T>C
NM_170784.3:c.1272+6T>C
NG_009109.2:g.31609T>C
NC_000020.11:g.10407610A>G
More... 		12/05/2019 intron variant uncertain significance Hydrometrocolpos syndrome; Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; McKusick-Kaufman syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MKKS
Accession:NM_018848
Location:INTRON

Gene Symbol:MKKS
Accession:NM_170784
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MKKS
Accession:NR_072977
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001071375 CLINVAR
dbSNP (RS) rs2064851919 CLINVAR
MedGen C0752166 CLINVAR
NCBI Gene MKKS CLINVAR
OMIM 236700 CLINVAR
  604896 CLINVAR
SNOMED CT 5619004 CLINVAR