rs797044824 Rat Genome Database

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Variant: rs797044824 -  Homo sapiens

RGD ID: 10408052
RS ID: rs797044824
ClinVar ID: CV204290
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCOLN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 7,591,755
GRCh38 19 7,526,869
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
NG_015806.1:g.9260C>T
NC_000019.10:g.7526869C>T
NC_000019.9:g.7591755C>T
NP_065394.1:p.Arg172Ter
More... 		04/30/2022 nonsense pathogenic|likely pathogenic|conflicting interpretations of pathogenicity infancy <1 / 1 000 000 BAND-SHAPED AND WHORLED MICROCYSTIC CORNEAL EPITHELIAL DYSTROPHY; ML 4; ML IV; Mucolipidosis type 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MCOLN1
Accession:NM_020533
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKGRKPCKLMLQVVKILVVTVQL
ILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAYTREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDPWTNG
SGLALCQRYYH*GHVDPANDTFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIHFRLKTI
NLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLLFDVVVILTCSLSFLLCARSL
LRGFLLQNEFVGFMWRQRGRVISLWERLEFVNGWYILLVTSDVLTISGTIMKIGIEAKNLASYDVCSILLGTSTLLVWVG
VIRYLTFFHNYNILIATLRVALPSVMRFCCCVAVIYLGYCFCGWIVLGPYHVKFRSLSMVSECLFSLINGDDMFVTFAAM
QAQQGRSSLVWLFSQLYLYSFISLFIYMVLSLFIALITGAYDTIKHPGGAGAEESELQAYIAQCQDSPTSGKFRRGSGSA
CSLLCCCGRDPSEEHSLLVN*
Variant Samples
Additional References at PubMed
PMID:11030752   PMID:11317355   PMID:12182165   PMID:21763169   PMID:25119295   PMID:25741868   PMID:28492532   PMID:33454187   PMID:37972748  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000195067 CLINVAR
  RCV003985298 CLINVAR
dbSNP (RS) rs797044824 CLINVAR
MedGen C0238286 CLINVAR
  C2749050 CLINVAR
NCBI Gene MCOLN1 CLINVAR
OMIM 252650 CLINVAR
  605248 CLINVAR
  620763 CLINVAR
OMIM Allele 605248.0011 CLINVAR
SNOMED CT 111384001 CLINVAR