rs121909126 Rat Genome Database

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Variant: rs121909126 -  Homo sapiens

RGD ID: 8597611
RS ID: rs121909126
ClinVar ID: CV22679
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LEFTY2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 226,125,217
GRCh38 1 225,937,517
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008118.1:g.8704G>A
NC_000001.11:g.225937517C>T
NC_000001.10:g.226125217C>T
NP_003231.2:p.Ser342Asn
More...
10/17/2022 missense|missense variant pathogenic|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LEFTY2
Accession:XM_011544266
Location:3UTRS;EXON

Gene Symbol:LEFTY2
Accession:NM_003240
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWPLWLCWALWVLPLAGPGAALTEEQLLGSLLRQLQLSEVPVLDRADMEKLVIPAHVRAQYVVLLRRSHGDRSRGKRFSQ
SFREVAGRFLASEASTHLLVFGMEQRLPPNSELVQAVLRLFQEPVPKAALHRHGRLSPRSAQARVTVEWLRVRDDGSNRT
SLIDSRLVSVHESGWKAFDVTEAVNFWQQLSRPRQPLLLQVSVQREHLGPLASGAHKLVRFASQGAPAGLGEPQLELHTL
DLRDYGAQGDCDPEAPMTEGTRCCRQEMYIDLQGMKWAKNWVLEPPGFLAYECVGTCQQPPEALAFNWPFLGPRQCIASE
TASLPMIVSIKEGGRTRPQVVNLPNMRVQKCSCASDGALVPRRLQP*

Gene Symbol:LEFTY2
Accession:NM_001172425
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWPLWLCWALWVLPLAGPGAALTEEQLLGSLLRQLQLSEVPVLDRADMEKLVIPAHVRAQYVVLLRRSHGDRSRGKRFSQ
SFREVAGRFLASEAALHRHGRLSPRSAQARVTVEWLRVRDDGSNRTSLIDSRLVSVHESGWKAFDVTEAVNFWQQLSRPR
QPLLLQVSVQREHLGPLASGAHKLVRFASQGAPAGLGEPQLELHTLDLRDYGAQGDCDPEAPMTEGTRCCRQEMYIDLQG
MKWAKNWVLEPPGFLAYECVGTCQQPPEALAFNWPFLGPRQCIASETASLPMIVSIKEGGRTRPQVVNLPNMRVQKCSCA
SDGALVPRRLQP*

Variant Samples
Additional References at PubMed
PMID:10053005   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000008079 CLINVAR
dbSNP (RS) rs121909126 CLINVAR
MedGen C1866091 CLINVAR
NCBI Gene LEFTY2 CLINVAR
OMIM 601877 CLINVAR
OMIM Allele 601877.0002 CLINVAR