RGD:15193529 Rat Genome Database

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Variant: RGD:15193529 -  Homo sapiens

RGD ID: 15193529
RS ID: rs377320080
ClinVar ID: CV765932
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLOD3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 100,856,197
GRCh38 7 101,212,916
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.805G>A
NG_012148.1:g.9815G>A
NC_000007.14:g.101212916C>T
NC_000007.13:g.100856197C>T
More... 		08/01/2018 missense variant likely benign|conflicting interpretations of pathogenicity none provided

Variant Details
Variant Transcripts
Gene Symbol:PLOD3
Accession:NM_001084
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSSGPGPRFLLLLPLLLPPAASASDRPRGRDPVNPEKLLVITVATAETEGYLRFLRSAEFFNYTVRTLGLGEEWRGGDV
ARTVGGGQKVRWLKKEMEKYADREDMIIMFVDSYDVILAGSPTELLKKFVQSGSRLLFSAESFCWPEWGLAEQYPEVGTG
KRFLNSGGFIGFATTIHQIVRQWKYKDDDDDQLFYTRLYLDPGLREKLSLNLDHKSRIFQNLNGALDEVVLKFDRNRVRI
RNVAYDTLPIVVHGNGPTKLQLNYLGNYIPNGWTPEGGCGFCNQDRRTLPGGQPPPRVFLAVFVEQPTPFLPRFLQRLLL
LDYPPDRVTLFLHNNEVFHEPHIADSWPQLQDHFSAVKLVGPEEALSPGEARDMAMDLCRQDPECEFYFSLDADAVLTNL
QTLRILIEENRKVIAPMLSRHGKLWSNFWGALSPDEYYARSEDYVELVQRKRVGVWNVPYISQAYVIRGDTLRMELPQRD
VFSGSDTDPDMAFCKSFRDKGIFLHLSNQHEFGRLLATSRYDTEHLHPDLWQIFDNPVDWKEQYIHENYSRALEGEGIVE
QPCPDVYWFPLLSEQMCDELVAEMEHYGQWSGGRHEDSRLAGGYENVPTVDIHMKQVGYEDQWLQLLRTYVGPMTESLFP
GYHTKARAVMNFVVRYRPDEQPSLRPHHDSSTFTLNVALNHKGLDYEGGGCRFLRYDCVISSPRKGWALLHPGRLTHYHE
GLPTTWGTRYIMVSFVDP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000933389 CLINVAR
dbSNP (RS) rs377320080 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PLOD3 CLINVAR
OMIM 603066 CLINVAR