RGD:10406964 Rat Genome Database

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Variant: RGD:10406964 -  Homo sapiens

RGD ID: 10406964
RS ID: rs797045708
ClinVar ID: CV207175
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSX2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 174,152,037
GRCh38 5 174,725,034
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008124.1:g.5463G>T
NC_000005.10:g.174725034G>T
NC_000005.9:g.174152037G>T
NP_002440.2:p.Pro125=
More... 		07/27/2015 synonymous variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MSX2
Accession:NM_001363626
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPSKGNDLFSPDEEGPAVVAGPGPGPGGAEGAAEERRVKVSSLPFSVEALMSDKKPPKEASPLPAESASAGATLRPLL
LSGHGAREAHSPGPLVKPFETASVKSENSEDGAAWMQEPGRYSPPPSECAPGQE*

Gene Symbol:MSX2
Accession:NM_002449
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPSKGNDLFSPDEEGPAVVAGPGPGPGGAEGAAEERRVKVSSLPFSVEALMSDKKPPKEASPLPAESASAGATLRPLL
LSGHGAREAHSPGPLVKPFETASVKSENSEDGAAWMQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRTPFTTSQLLALERK
FRQKQYLSIAERAEFSSSLNLTETQVKIWFQNRRAKAKRLQEAELEKLKMAAKPMLPSSFSLPFPISSPLQAASIYGASY
PFHRPVLPIPPVGLYATPVGYGMYHLS*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000194886 CLINVAR
dbSNP (RS) rs797045708 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MSX2 CLINVAR
OMIM 123101 CLINVAR