RGD:8572452 Rat Genome Database

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Variant: RGD:8572452 -  Homo sapiens

RGD ID: 8572452
RS ID: rs398123026
ClinVar ID: CV59846
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGF17  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 21,905,669
GRCh38 8 22,048,158
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_033889.1:g.10242A>G
NC_000008.11:g.22048158A>G
NC_000008.10:g.21905669A>G
NP_003858.1:p.Asn187Ser
More... 		06/05/2013 missense|missense variant pathogenic 1-9 / 100 000 HYPOGONADOTROPIC HYPOGONADISM 20 WITH ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 20 WITH ANOSMIA, SUSCEPTIBILITY TO
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FGF17
Accession:NM_003867
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAARLLPNLTLCLQLLILCCQTQGENHPSPNFNQYVRDQGAMTDQLSRRQIREYQLYSRTSGKHVQVTGRRISATAEDG
NKFAKLIVETDTFGSRVRIKGAESEKYICMNKRGKLIGKPSGKSKDCVFTEIVLENNYTAFQNARHEGWFMAFTRQGRPR
QASRSRQNQREAHFIKRLYQGQLPFPSHAEKQKQFEFVGSAPTRRTKRTRRPQPLT*

Gene Symbol:FGF17
Accession:XM_005273675
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAICPLHSAGQVACPHYIHLLTPLPWMDQWWCHPKQIDTIFPLVTAKGENHPSPNFNQYVRDQGAMTDQLSRRQIREYQL
YSRTSGKHVQVTGRRISATAEDGNKFAKLIVETDTFGSRVRIKGAESEKYICMNKRGKLIGKPSGKSKDCVFTEIVLENN
YTAFQNARHEGWFMAFTRQGRPRQASRSRQNQREAHFIKRLYQGQLPFPSHAEKQKQFEFVGSAPTRRTKRTRRPQPLT*

Gene Symbol:FGF17
Accession:NM_001304478
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAARLLPNLTLCLQLLILCCQTQYVRDQGAMTDQLSRRQIREYQLYSRTSGKHVQVTGRRISATAEDGNKFAKLIVETD
TFGSRVRIKGAESEKYICMNKRGKLIGKPSGKSKDCVFTEIVLENNYTAFQNARHEGWFMAFTRQGRPRQASRSRQNQRE
AHFIKRLYQGQLPFPSHAEKQKQFEFVGSAPTRRTKRTRRPQPLT*

Gene Symbol:FGF17
Accession:XM_011544684
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELSVHRSPGPRIPPLILKTQEGFCIPTMKQLLILCCQTQGENHPSPNFNQYVRDQGAMTDQLSRRQIREYQLYSRTSGK
HVQVTGRRISATAEDGNKFAKLIVETDTFGSRVRIKGAESEKYICMNKRGKLIGKPSGKSKDCVFTEIVLENNYTAFQNA
RHEGWFMAFTRQGRPRQASRSRQNQREAHFIKRLYQGQLPFPSHAEKQKQFEFVGSAPTRRTKRTRRPQPLT*

Gene Symbol:FGF17
Accession:XM_011544683
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELSVHRSPGPRIPPLILKTQEGFCIPTMKQLLILCCQTQGENHPSPNFNQYVRDQGAMTDQLSRRQIREYQLYSRTSGK
HVQVTGRRISATAEDGNKFAKLIVETDTFGSRVRIKGAESEKYICMNKRGKLIGKPSGKSKDCVFTEIVLENNYTAFQNA
RHEGWFMAFTRQGRPRQASRSRQNQREAHFIKRLYQGQLPFPSHAEKQKQFEFVGSAPTRRTKRTRRPQPLT*

Gene Symbol:FGF17
Accession:XM_011544685
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELSVHRSPGPRIPPLILKTQEGFCIPTMKQLLILCCQTQYVRDQGAMTDQLSRRQIREYQLYSRTSGKHVQVTGRRISA
TAEDGNKFAKLIVETDTFGSRVRIKGAESEKYICMNKRGKLIGKPSGKSKDCVFTEIVLENNYTAFQNARHEGWFMAFTR
QGRPRQASRSRQNQREAHFIKRLYQGQLPFPSHAEKQKQFEFVGSAPTRRTKRTRRPQPLT*
Variant Samples
Additional References at PubMed
PMID:23643382  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000043600 CLINVAR
dbSNP (RS) rs398123026 CLINVAR
MedGen C3808983 CLINVAR
NCBI Gene FGF17 CLINVAR
OMIM 603725 CLINVAR
  615270 CLINVAR
OMIM Allele 603725.0003 CLINVAR