rs1481251822 Rat Genome Database

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Variant: rs1481251822 -  Homo sapiens

RGD ID: 151758233
RS ID: rs1481251822
ClinVar ID: CV1509109
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FKBP14  FKBP14-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 30,066,107
GRCh38 7 30,026,491
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.18G>C
LRG_454:g.5311G>C
NG_032173.1:g.5311G>C
NC_000007.14:g.30026491C>G
More... 		07/19/2022 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:NM_017946
Location:EXON
Amino Acid Prediction: W to C (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFLCNAVLTLFVTSLIGALIPEPEVKIEVLQKPFICHRKTKGGDLMLVHYEGYLEKDGSLFHSTHKHNNGQPIWFTLG
ILEALKGWDQGLKGMCVGEKRKLIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRSHESFQEMDLNDDWKLSKDEV
KAYLKKEFEKHGAVVNESHHDALVEDIFDKEDEDKDGFISAREFTYKHDEL*

Gene Symbol:FKBP14
Accession:XM_047420550
Location:EXON
Amino Acid Prediction: W to C (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFLCNAVLTLFVTSLIGALIPEPEVKIEVLQKPFICHRKTKGGDLMLVHYEGYLEKDGSLFHSTHKHNNGQPIWFTLG
ILEALKGWDQGLKGMCVGEKRKLIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRSHESFQEMDLNDDWKLSKDEN
YLQHTPVEECSSRFRRKKKNDSSSQPWWLTPVISTLPEAKEGGSLELRSLRPAWAT*

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002024068 CLINVAR
dbSNP (RS) rs1481251822 CLINVAR
MedGen C3281160 CLINVAR
NCBI Gene FKBP14 CLINVAR
  FKBP14-AS1 CLINVAR
OMIM 614505 CLINVAR
  614557 CLINVAR