rs2146021205 Rat Genome Database

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Variant: rs2146021205 -  Homo sapiens

RGD ID: 151870817
RS ID: rs2146021205
ClinVar ID: CV1453947
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCOLN1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 7,589,881
GRCh38 19 7,524,995
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.9:g.7589881T>G
NP_065394.1:p.Tyr22Ter
NM_020533.3:c.66T>G
NG_015806.1:g.7386T>G
More... 		11/26/2021 nonsense pathogenic 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: Y to * (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAPAGPRGSETERLLTPNPG*GTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKGRKPCKLMLQVVKILVVTVQL
ILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAYTREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDPWTNG
SGLALCQRYYHRGHVDPANDTFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIHFRLKTI
NLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLLFDVVVILTCSLSFLLCARSL
LRGFLLQNEFVGFMWRQRGRVISLWERLEFVNGWYILLVTSDVLTISGTIMKIGIEAKNLASYDVCSILLGTSTLLVWVG
VIRYLTFFHNYNILIATLRVALPSVMRFCCCVAVIYLGYCFCGWIVLGPYHVKFRSLSMVSECLFSLINGDDMFVTFAAM
QAQQGRSSLVWLFSQLYLYSFISLFIYMVLSLFIALITGAYDTIKHPGGAGAEESELQAYIAQCQDSPTSGKFRRGSGSA
CSLLCCCGRDPSEEHSLLVN*
Variant Samples
Additional References at PubMed
PMID:11030752   PMID:11317355   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001939774 CLINVAR
dbSNP (RS) rs2146021205 CLINVAR
MedGen C0238286 CLINVAR
NCBI Gene MCOLN1 CLINVAR
OMIM 252650 CLINVAR
  605248 CLINVAR
SNOMED CT 111384001 CLINVAR