RGD:12907377 Rat Genome Database

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Variant: RGD:12907377 -  Homo sapiens

RGD ID: 12907377
RS ID: rs748105435
ClinVar ID: CV227305
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLOD3  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 100,850,904
GRCh38 7 101,207,623
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012148.1:g.15108T>G
NC_000007.14:g.101207623A>C
NC_000007.13:g.100850904A>C
NP_001075.1:p.Tyr630Ter
More... 		03/18/2016 nonsense likely pathogenic LH3 DEFICIENCY; LYSYL HYDROXYLASE 3 DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLOD3
Accession:NM_001084
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 630
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSSGPGPRFLLLLPLLLPPAASASDRPRGRDPVNPEKLLVITVATAETEGYLRFLRSAEFFNYTVRTLGLGEEWRGGDV
ARTVGGGQKVRWLKKEMEKYADREDMIIMFVDSYDVILAGSPTELLKKFVQSGSRLLFSAESFCWPEWGLAEQYPEVGTG
KRFLNSGGFIGFATTIHQIVRQWKYKDDDDDQLFYTRLYLDPGLREKLSLNLDHKSRIFQNLNGALDEVVLKFDRNRVRI
RNVAYDTLPIVVHGNGPTKLQLNYLGNYVPNGWTPEGGCGFCNQDRRTLPGGQPPPRVFLAVFVEQPTPFLPRFLQRLLL
LDYPPDRVTLFLHNNEVFHEPHIADSWPQLQDHFSAVKLVGPEEALSPGEARDMAMDLCRQDPECEFYFSLDADAVLTNL
QTLRILIEENRKVIAPMLSRHGKLWSNFWGALSPDEYYARSEDYVELVQRKRVGVWNVPYISQAYVIRGDTLRMELPQRD
VFSGSDTDPDMAFCKSFRDKGIFLHLSNQHEFGRLLATSRYDTEHLHPDLWQIFDNPVDWKEQYIHENYSRALEGEGIVE
QPCPDVYWFPLLSEQMCDELVAEMEHYGQWSGGRHEDSRLAGGYENVPTVDIHMKQVGYEDQWLQLLRT*VGPMTESLFP
GYHTKARAVMNFVVRYRPDEQPSLRPHHDSSTFTLNVALNHKGLDYEGGGCRFLRYDCVISSPRKGWALLHPGRLTHYHE
GLPTTWGTRYIMVSFVDP*
Variant Samples
Additional References at PubMed
PMID:18834968   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000490386 CLINVAR
dbSNP (RS) rs748105435 CLINVAR
MedGen C2676285 CLINVAR
NCBI Gene PLOD3 CLINVAR
OMIM 603066 CLINVAR
  612394 CLINVAR