RGD:15180477 Rat Genome Database

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Variant: RGD:15180477 -  Homo sapiens

RGD ID: 15180477
RS ID: rs16826648
ClinVar ID: CV696483
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WNT4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 22,456,146
GRCh38 1 22,129,653
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_030761.5:c.276C>T
NG_008974.1:g.18374C>T
NC_000001.11:g.22129653G>A
NC_000001.10:g.22456146G>A
More... 		12/27/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:WNT4
Accession:NM_030761
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPRSCLRSLRLLVFAVFSAAASNWLYLAKLSSVGSISEEETCEKLKGLIQRQVQMCKRNLEVMDSVRRGAQLAIEECQY
QFRNRRWNCSTLDSLPVFGKVVTQGTREAAFVYAISSAGVAFAVTRACSSGELEKCGCDRTVHGVSPQGFQWSGCSDNIA
YGVAFSQSFVDVRERSKGASSSRALMNLHNNEAGRKAILTHMRVECKCHGVSGSCEVKTCWRAVPPFRQVGHALKEKFDG
ATEVEPRRVGSSRALVPRNAQFKPHTDEDLVYLEPSPDFCEQDMRSGVLGTRGRTCNKTSKAIDGCELLCCGRGFHTAQV
ELAERCSCKFHWCCFVKCRQCQRLVELHTCR*

Gene Symbol:WNT4
Accession:XM_011541599
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQLTPAPPPASSQGSLCSTQGKRNKRLPRTLPNQRGYEGEDTGHIPRYLAKLSSVGSISEEETCEKLKGLIQRQVQMCK
RNLEVMDSVRRGAQLAIEECQYQFRNRRWNCSTLDSLPVFGKVVTQGGKAWHGGDSGCHLLTESRSGERTQRRKEGGSLG
QCWPEAIVGTQDPMRSPPYLWGRNQGGTHTGSASEGH*

Gene Symbol:WNT4
Accession:XM_011541597
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQLTPAPPPASSQGSLCSTQGKRNKRLPRTLPNQRGYEGEDTGHIPRYLAKLSSVGSISEEETCEKLKGLIQRQVQMCK
RNLEVMDSVRRGAQLAIEECQYQFRNRRWNCSTLDSLPVFGKVVTQGTREAAFVYAISSAGVAFAVTRACSSGELEKCGC
DRTVHGVSPQGFQWSGCSDNIAYGVAFSQSFVDVRERSKGASSSRALMNLHNNEAGRKAILTHMRVECKCHGVSGSCEVK
TCWRAVPPFRQVGHALKEKFDGATEVEPRRVGSSRALVPRNAQFKPHTDEDLVYLEPSPDFCEQDMRSGVLGTRGRTCNK
TSKAIDGCELLCCGRGFHTAQVELAERCSCKFHWCCFVKCRQCQRLVELHTCR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000951758 CLINVAR
dbSNP (RS) rs16826648 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene WNT4 CLINVAR
OMIM 603490 CLINVAR