RGD:11545929 Rat Genome Database

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Variant: RGD:11545929 -  Homo sapiens

RGD ID: 11545929
RS ID: rs61734546
ClinVar ID: CV257303
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MKKS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 10,386,146
GRCh38 20 10,405,498
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_018848.3:c.1462G>A
NC_000020.11:g.10405498C>T
NC_000020.10:g.10386146C>T
NP_061336.1:p.Ala488Thr
More... 		01/22/2019 missense variant benign|likely benign antenatal|childhood 1-9 / 100 000 AllHighlyPenetrant; Hydrometrocolpos syndrome; Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; McKusick-Kaufman syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MKKS
Accession:NM_018848
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 488
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTAS
IQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTS
KPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALK
VALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTL
MEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLT
LKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSV
QADSPCVTNWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLIL
DLSYVIEDKN*

Gene Symbol:MKKS
Accession:NM_170784
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 488
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTAS
IQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTS
KPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALK
VALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTL
MEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLT
LKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSV
QADSPCVTNWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLIL
DLSYVIEDKN*

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

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:20472660   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000245802 CLINVAR
  RCV000277938 CLINVAR
  RCV000326048 CLINVAR
  RCV000528510 CLINVAR
  RCV001561664 CLINVAR
dbSNP (RS) rs61734546 CLINVAR
MedGen C0752166 CLINVAR
  C0948368 CLINVAR
  C1858054 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MKKS CLINVAR
OMIM 236700 CLINVAR
  604896 CLINVAR
  605231 CLINVAR
SNOMED CT 5619004 CLINVAR