RGD:14394353 Rat Genome Database

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Variant: RGD:14394353 -  Homo sapiens

RGD ID: 14394353
RS ID: rs1432678087
ClinVar ID: CV609636
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLOD3  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 100,849,579
GRCh38 7 101,206,298
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001084.5:c.2200T>A
NG_012148.1:g.16433T>A
NC_000007.14:g.101206298A>T
NC_000007.13:g.100849579A>T
More... 		06/12/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PLOD3
Accession:NM_001084
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 734
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSSGPGPRFLLLLPLLLPPAASASDRPRGRDPVNPEKLLVITVATAETEGYLRFLRSAEFFNYTVRTLGLGEEWRGGDV
ARTVGGGQKVRWLKKEMEKYADREDMIIMFVDSYDVILAGSPTELLKKFVQSGSRLLFSAESFCWPEWGLAEQYPEVGTG
KRFLNSGGFIGFATTIHQIVRQWKYKDDDDDQLFYTRLYLDPGLREKLSLNLDHKSRIFQNLNGALDEVVLKFDRNRVRI
RNVAYDTLPIVVHGNGPTKLQLNYLGNYVPNGWTPEGGCGFCNQDRRTLPGGQPPPRVFLAVFVEQPTPFLPRFLQRLLL
LDYPPDRVTLFLHNNEVFHEPHIADSWPQLQDHFSAVKLVGPEEALSPGEARDMAMDLCRQDPECEFYFSLDADAVLTNL
QTLRILIEENRKVIAPMLSRHGKLWSNFWGALSPDEYYARSEDYVELVQRKRVGVWNVPYISQAYVIRGDTLRMELPQRD
VFSGSDTDPDMAFCKSFRDKGIFLHLSNQHEFGRLLATSRYDTEHLHPDLWQIFDNPVDWKEQYIHENYSRALEGEGIVE
QPCPDVYWFPLLSEQMCDELVAEMEHYGQWSGGRHEDSRLAGGYENVPTVDIHMKQVGYEDQWLQLLRTYVGPMTESLFP
GYHTKARAVMNFVVRYRPDEQPSLRPHHDSSTFTLNVALNHKGLDYEGGGCRFLRYDCVISSPRKGWALLHPGRLTHYHE
GLPTTWGTRYIMVTFVDP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000757675 CLINVAR
dbSNP (RS) rs1432678087 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PLOD3 CLINVAR
OMIM 603066 CLINVAR