RGD:9693077 Rat Genome Database

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Variant: RGD:9693077 -  Homo sapiens

RGD ID: 9693077
RS ID: rs74315394
ClinVar ID: CV38435
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MKKS  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 10,393,439
GRCh38 20 10,412,791
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_170784.3:c.724G>T
NC_000020.11:g.10412791C>A
NC_000020.10:g.10393439C>A
NP_740754.1:p.Ala242Ser
More... 		08/22/2023 intron variant|missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance 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_170784
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTAS
IQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTS
KPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALK
VSLFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTL
MEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLT
LKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSV
QADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLIL
DLSYVIEDKN*

Gene Symbol:MKKS
Accession:NM_018848
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTAS
IQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTS
KPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALK
VSLFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTL
MEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLT
LKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSV
QADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLIL
DLSYVIEDKN*

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:10802661   PMID:15483080   PMID:16104012   PMID:18094050   PMID:20498079   PMID:25741868   PMID:28492532   PMID:28753627   PMID:29588463   PMID:30504698   PMID:31028937   PMID:35835773  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000153503 CLINVAR
  RCV000436285 CLINVAR
  RCV000990285 CLINVAR
  RCV001084541 CLINVAR
dbSNP (RS) rs74315394 CLINVAR
MedGen C0752166 CLINVAR
  C0948368 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MKKS CLINVAR
OMIM 236700 CLINVAR
  604896 CLINVAR
SNOMED CT 5619004 CLINVAR