RGD:11586660 Rat Genome Database

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Variant: RGD:11586660 -  Homo sapiens

RGD ID: 11586660
RS ID: rs141770128
ClinVar ID: CV285472
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOXD10  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 176,982,026
GRCh38 2 176,117,298
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_002148.3:c.465T>C
LRG_246t1:c.465T>C
LRG_246:g.10535T>C
NG_008133.2:g.10535T>C
More... 		04/01/2019 synonymous variant benign|likely benign|uncertain significance infancy Pes valgus, congenital convex; Rocker-bottom foot deformity
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HOXD10
Accession:NM_002148
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFPNSSPAANTFLVDSLISACRSDSFYSSSASMYMPPPSADMGTYGMQTCGLLPSLAKREVNHQNMGMNVHPYIPQVDS
WTDPNRSCRIEQPVTQQVPTCSFTTNIKEESNCCMYSDKRNKLISAEVPSYQRLVPESCPVENPEVPVPGYFRLSQTYAT
GKTQEYNNSPEGSSTVMLQLNPRGAAKPQLSAAQLQMEKKMNEPVSGQEPTKVSQVESPEAKGGLPEERSCLAEVSVSSP
EVQEKESKEEIKSDTPTSNWLTAKSGRKKRCPYTKHQTLELEKEFLFNMYLTRERRLEISKSVNLTDRQVKIWFQNRRMK
LKKMSRENRIRELTANLTFS*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000289648 CLINVAR
  RCV003957713 CLINVAR
dbSNP (RS) rs141770128 CLINVAR
MedGen C0240912 CLINVAR
NCBI Gene HOXD10 CLINVAR
OMIM 142984 CLINVAR
  192950 CLINVAR