RGD:28881222 Rat Genome Database

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Variant: RGD:28881222 -  Homo sapiens

RGD ID: 28881222
RS ID: rs2030399859
ClinVar ID: CV888136
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLOD2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 145,842,005
GRCh38 3 146,124,218
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000935.3:c.121G>A
NP_000926.2:p.Val41Ile
NM_000935.2:c.121G>A
NP_891988.1:p.Val41Ile
More... 		01/13/2018 missense variant uncertain significance OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLOD2
Accession:XM_017006625
Location:5UTRS;EXON

Gene Symbol:PLOD2
Accession:XM_047448319
Location:5UTRS;EXON

Gene Symbol:PLOD2
Accession:XM_047448320
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPTDKLLIITVATKESDGFHRFMQSAKYFNYTVKVLGQGEEWRGGDG
INSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAGGPEEVLKKFQKANHKVVFAADGILWPDKRLADKYPVVHIG
KRYLNSGGFIGYAPYVNRIVQQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAVDEVVLKFENGKARA
KNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQPTPFLPRFLDILLT
LDYPKEALKLFIHNKEVYHEKDIKVFFDKAKHEIKTIKIVGPEENLSQAEARNMGMDFCRQDEKCDYYFSVDADVVLTNP
RTLKILIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYLIKGKTLRSEMNERN
YFVRDKLDPDMALCRNAREMTLQREKDSPTPETFQMLSPPKEFFPRCLHLGSMRKGQKQSILLFFRCIYVHF*

Gene Symbol:PLOD2
Accession:NM_000935
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPTDKLLIITVATKESDGFHRFMQSAKYFNYTVKVLGQGEEWRGGDG
INSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAGGPEEVLKKFQKANHKVVFAADGILWPDKRLADKYPVVHIG
KRYLNSGGFIGYAPYVNRIVQQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAVDEVVLKFENGKARA
KNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQPTPFLPRFLDILLT
LDYPKEALKLFIHNKEVYHEKDIKVFFDKAKHEIKTIKIVGPEENLSQAEARNMGMDFCRQDEKCDYYFSVDADVVLTNP
RTLKILIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYLIKGKTLRSEMNERN
YFVRDKLDPDMALCRNAREMGVFMYISNRHEFGRLLSTANYNTSHYNNDLWQIFENPVDWKEKYINRDYSKIFTENIVEQ
PCPDVFWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRISGGYENVPTDDIHMKQVDLENVWLHFIREFIAPVTLKVFAG
YYTKGFALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEG
LPVKNGTRYIAVSFIDP*

Gene Symbol:PLOD2
Accession:NM_182943
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPTDKLLIITVATKESDGFHRFMQSAKYFNYTVKVLGQGEEWRGGDG
INSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAGGPEEVLKKFQKANHKVVFAADGILWPDKRLADKYPVVHIG
KRYLNSGGFIGYAPYVNRIVQQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAVDEVVLKFENGKARA
KNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQPTPFLPRFLDILLT
LDYPKEALKLFIHNKEVYHEKDIKVFFDKAKHEIKTIKIVGPEENLSQAEARNMGMDFCRQDEKCDYYFSVDADVVLTNP
RTLKILIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYLIKGKTLRSEMNERN
YFVRDKLDPDMALCRNAREMTLQREKDSPTPETFQMLSPPKGVFMYISNRHEFGRLLSTANYNTSHYNNDLWQIFENPVD
WKEKYINRDYSKIFTENIVEQPCPDVFWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRISGGYENVPTDDIHMKQVDLE
NVWLHFIREFIAPVTLKVFAGYYTKGFALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSI
ESPRKGWSFMHPGRLTHLHEGLPVKNGTRYIAVSFIDP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001149554 CLINVAR
dbSNP (RS) rs2030399859 CLINVAR
MedGen C1836602 CLINVAR
NCBI Gene PLOD2 CLINVAR
OMIM 601865 CLINVAR
  609220 CLINVAR