rs1159422560 Rat Genome Database

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Variant: rs1159422560 -  Homo sapiens

RGD ID: 126760982
RS ID: rs1159422560
ClinVar ID: CV1028007
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FKBP14  FKBP14-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 30,065,988
GRCh38 7 30,026,372
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017946.4:c.137A>G
LRG_454:g.5430A>G
NG_032173.1:g.5430A>G
NC_000007.14:g.30026372T>C
More... 		02/08/2022 missense variant uncertain significance Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FKBP14
Accession:XM_047420550
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFLWNAVLTLFVTSLIGALIPEPEVKIEVLQKPFICHRKTKGGGLMLVHYEGYLEKDGSLFHSTHKHNNGQPIWFTLG
ILEALKGWDQGLKGMCVGEKRKLIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRSHESFQEMDLNDDWKLSKDEN
YLQHTPVEECSSRFRRKKKNDSSSQPWWLTPVISTLPEAKEGGSLELRSLRPAWAT*

Gene Symbol:FKBP14
Accession:NM_017946
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFLWNAVLTLFVTSLIGALIPEPEVKIEVLQKPFICHRKTKGGGLMLVHYEGYLEKDGSLFHSTHKHNNGQPIWFTLG
ILEALKGWDQGLKGMCVGEKRKLIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRSHESFQEMDLNDDWKLSKDEV
KAYLKKEFEKHGAVVNESHHDALVEDIFDKEDEDKDGFISAREFTYKHDEL*

Gene Symbol:FKBP14
Accession:NR_046478
Location:EXON;NON-CODING

Gene Symbol:FKBP14-AS1
Accession:NR_187577
Location:EXON;NON-CODING

Gene Symbol:FKBP14
Accession:NR_046479
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001340559 CLINVAR
dbSNP (RS) rs1159422560 CLINVAR
MedGen C3281160 CLINVAR
NCBI Gene FKBP14 CLINVAR
  FKBP14-AS1 CLINVAR
OMIM 614505 CLINVAR
  614557 CLINVAR